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Ehlers Danlos syndrome with a likely monogenic cause v3.12 ADAMTSL2 Achchuthan Shanmugasundram Classified gene: ADAMTSL2 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v3.12 ADAMTSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, six families were reported with the same monoallelic variant and with Ehlers-Danlos syndrome. However, there is no functional data and it is not clear whether it is a founder variant. Hence, this gene can only be rated amber with the current evidence in this panel.
Ehlers Danlos syndrome with a likely monogenic cause v3.12 ADAMTSL2 Achchuthan Shanmugasundram Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v3.11 ADAMTSL2 Achchuthan Shanmugasundram reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, MONDO:0020066; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v3.11 EFEMP1 Sarah Leigh edited their review of gene: EFEMP1: Added comment: Monoallelic EFEMP1 variants have been associated with Doyne honeycomb degeneration of retina (OMIM:126600). PMIDs 31792352; 32006683; 33807164 report four recessive EFEMP1 variants in three cases with a pronounced connective tissue disorder. PMID: 31792352 also describes a Efemp1 knockout mouse model, with a phenotype that matches the human cases.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v3.11 EFEMP1 Sarah Leigh Tag Q1_24_promote_green tag was added to gene: EFEMP1.
Ehlers Danlos syndrome with a likely monogenic cause v3.11 EFEMP1 Sarah Leigh Classified gene: EFEMP1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v3.11 EFEMP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ehlers Danlos syndrome with a likely monogenic cause v3.11 EFEMP1 Sarah Leigh Gene: efemp1 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v3.10 EFEMP1 Sarah Leigh Publications for gene: EFEMP1 were set to 32006683; 31792352
Ehlers Danlos syndrome with a likely monogenic cause v3.9 LTBP2 Arina Puzriakova Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341
Ehlers Danlos syndrome with a likely monogenic cause v3.8 LTBP2 Arina Puzriakova Phenotypes for gene: LTBP2 were changed from Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750; Glaucoma 3, primary congenital, D, OMIM:613086; Weill-Marchesani syndrome 3, recessive, OMIM:614819
Ehlers Danlos syndrome with a likely monogenic cause v3.7 LTBP2 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: LTBP2.
Ehlers Danlos syndrome with a likely monogenic cause v3.7 LTBP2 Arina Puzriakova Classified gene: LTBP2 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v3.7 LTBP2 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Andžela Lazdāne. Variants are typically associated with ocular abnormalities, and in a subset of cases (>3) marfanoid features may be observed. Marfan syndrome is an important differential diagnosis for this panel and therefore this gene could be promoted to Green at the next GMS review.
Ehlers Danlos syndrome with a likely monogenic cause v3.7 LTBP2 Arina Puzriakova Gene: ltbp2 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v3.3 COL12A1 Sarah Leigh Publications for gene: COL12A1 were set to 28306229; 28306225; 24334769; 24334604; 27348394
Ehlers Danlos syndrome with a likely monogenic cause v3.2 COL12A1 Sarah Leigh reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35019233; Phenotypes: ; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v3.2 COL12A1 Sarah Leigh Phenotypes for gene: COL12A1 were changed from Bethlem myopathy 2, OMIM:616471 to Bethlem myopathy 2, OMIM:616471; Bethlem myopathy 2, MONDO:0034022
Ehlers Danlos syndrome with a likely monogenic cause v3.1 Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
Ehlers Danlos syndrome with a likely monogenic cause v3.0 Catherine Snow promoted panel to version 3.0
Ehlers Danlos syndrome with a likely monogenic cause v2.70 Sarah Leigh Panel name changed from Ehlers Danlos syndromes to Ehlers Danlos syndrome with a likely monogenic cause
List of related panels changed from Classical Ehlers Danlos Syndrome; Classical Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes; R101 to Classical Ehlers Danlos Syndrome; Classical Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes; Ehlers Danlos syndromes; R101
Ehlers Danlos syndrome with a likely monogenic cause v2.69 COL5A1 Achchuthan Shanmugasundram Publications for gene: COL5A1 were set to 28306229; 28192633; 22696272; 15264295; 9042913
Ehlers Danlos syndrome with a likely monogenic cause v2.68 TPSAB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TPSAB1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 LTBP1 Mafalda Gomes Tag Q3_21_rating was removed from gene: LTBP1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 IPO8 Mafalda Gomes reviewed gene: IPO8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v2.68 IPO8 Mafalda Gomes Tag Q2_21_rating was removed from gene: IPO8.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 COL3A1 Mafalda Gomes Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 LTBP1 Achchuthan Shanmugasundram reviewed gene: LTBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v2.68 IPO8 Achchuthan Shanmugasundram reviewed gene: IPO8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v2.68 COL3A1 Achchuthan Shanmugasundram commented on gene: COL3A1
Ehlers Danlos syndrome with a likely monogenic cause v2.67 COL3A1 Mafalda Gomes Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams changed review comment from: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changes to Both mono and biallelic following GMS review.; to: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changed to Both mono and biallelic following GMS review.
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changes to Both mono and biallelic following GMS review.
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v2.65 COL3A1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.65 COL1A2 Eleanor Williams Added comment: Comment on mode of inheritance: The mode of inheritance for Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821 is monoallelic, but for Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320 it is biallelic, so it is correct that the mode of inheritance on this panel is BOTH mono- and bi-allelic.
Ehlers Danlos syndrome with a likely monogenic cause v2.65 COL1A2 Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.64 COL6A1 Arina Puzriakova Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090 to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.63 LTBP1 Eleanor Williams Classified gene: LTBP1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v2.63 LTBP1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber with a recommendation for green rating following GMS review. 3 families reported where joint hyperlaxity is noted.
Ehlers Danlos syndrome with a likely monogenic cause v2.63 LTBP1 Eleanor Williams Gene: ltbp1 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v2.62 LTBP1 Eleanor Williams Phenotypes for gene: LTBP1 were changed from Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly to Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Joint hyperlaxity
Ehlers Danlos syndrome with a likely monogenic cause v2.61 LTBP1 Eleanor Williams Publications for gene: LTBP1 were set to PMID: 33991472
Ehlers Danlos syndrome with a likely monogenic cause v2.60 LTBP1 Eleanor Williams Tag Q3_21_rating tag was added to gene: LTBP1.
Ehlers Danlos syndrome with a likely monogenic cause v2.60 LTBP1 Eleanor Williams edited their review of gene: LTBP1: Changed rating: GREEN; Changed publications to: 33991472; Changed phenotypes to: Cutis laxa, autosomal recessive, type IIE, OMIM:619451, Joint hyperlaxity; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.60 LTBP1 Eleanor Williams commented on gene: LTBP1
Ehlers Danlos syndrome with a likely monogenic cause v2.60 SMAD3 Eleanor Williams commented on gene: SMAD3: Note one case with a biallelic variant reported:
PMID: 32935439 - Baskin et al 2020 - first report of a LDS patient with biallelic SMAD3 variants (affecting splice site). Proband had classic Loeys-Dietz features, including dysmorphic facial features, significant scoliosis, and pectus excavatum, arachnodactyly, severe aortic root dilation, and diffuse arterial tortuosity. His parents are each heterozygous for the likely pathogenic variant and are more mildly affected.
Ehlers Danlos syndrome with a likely monogenic cause v2.60 IPO8 Ivone Leong Entity copied from Thoracic aortic aneurysm and dissection v1.15
Ehlers Danlos syndrome with a likely monogenic cause v2.60 IPO8 Ivone Leong gene: IPO8 was added
gene: IPO8 was added to Ehlers Danlos syndromes. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: IPO8.
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604; 34010605
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Ehlers Danlos syndrome with a likely monogenic cause v2.59 FLNA Arina Puzriakova Phenotypes for gene: FLNA were changed from to Cardiac valvular dysplasia, X-linked, OMIM:314400; Heterotopia, periventricular, 1, OMIM:300049
Ehlers Danlos syndrome with a likely monogenic cause v2.58 ATP6V1A Arina Puzriakova Publications for gene: ATP6V1A were set to 28065471
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP1 Andžela Lazdāne edited their review of gene: LTBP1: Changed phenotypes to: Cutis laxa, Craniofacial dysmorphism, Altered skeletal development, including short stature, Brachydactyly, Clinodactyly
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP1 Andžela Lazdāne changed review comment from: Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature; to: Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP1 Andžela Lazdāne gene: LTBP1 was added
gene: LTBP1 was added to Ehlers Danlos syndromes. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to PMID: 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa; craniofacial dysmorphism; altered skeletal development, including short stature; brachydactyly; clinodactyly
Penetrance for gene: LTBP1 were set to Complete
Review for gene: LTBP1 was set to GREEN
Added comment: Based on the literature homozygous premature truncating LTBP1 variants was reported in eight affected individuals with connective tissue features. In vivo validation with two independent zebrafish lines carrying mutations in LTBP1 induce abnormal collagen fibrillogenesis in skin and intervertebral ligaments and ectopic bone formation on the vertebrae.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.57 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Ehlers Danlos syndromes. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAMTSL2 were set to 33369194; 26879370
Phenotypes for gene: ADAMTSL2 were set to Dermatosparaxic Ehlers Danlos syndrome
Review for gene: ADAMTSL2 was set to AMBER
Added comment: Six families reported with same variant. However, in five, no further segregation studies were performed and overall it is unclear whether this is a founder variant or a recurrent variant. No functional data.

Note association between bi-allelic variants and geleophysic dysplasia is well established.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP2 Andžela Lazdāne changed review comment from: Based on the literature several individuals were suspected of marfan syndrome. Not only due to eye changes, but also due to stature, increased arm span and decreased upper-to-lower body ratio.
Sources: Literature; to: Based on the literature several individuals were suspected of Marfan syndrome. Not only due to eye changes, but also due to stature, increased arm span and decreased upper-to-lower body ratio.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.57 LTBP2 Andžela Lazdāne gene: LTBP2 was added
gene: LTBP2 was added to Ehlers Danlos syndromes. Sources: Literature
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341
Phenotypes for gene: LTBP2 were set to Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia
Penetrance for gene: LTBP2 were set to Complete
Review for gene: LTBP2 was set to AMBER
Added comment: Based on the literature several individuals were suspected of marfan syndrome. Not only due to eye changes, but also due to stature, increased arm span and decreased upper-to-lower body ratio.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.57 EFEMP1 Zornitza Stark edited their review of gene: EFEMP1: Set current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause v2.57 EFEMP1 Zornitza Stark edited their review of gene: EFEMP1: Added comment: PMID 33807164: third unrelated family reported, single affected individual with bi-alllelic LoF variant, cutis laxa and multiple herniations.; Changed rating: GREEN; Changed publications to: 32006683, 31792352, 33807164
Ehlers Danlos syndrome with a likely monogenic cause v2.57 PIEZO2 Ivone Leong Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, 248700; Connective tissue disorder to ?Marden-Walker syndrome, OMIM:248700; connective tissue disease, MONDO:0003900
Ehlers Danlos syndrome with a likely monogenic cause v2.56 NOTCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Connective Tissue Disorders;Aortic valve disease 1, 109730;Familial thoracic aortic aneurysm;Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndrome with a likely monogenic cause v2.56 NOTCH1 Ivone Leong Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV) to connective tissue disease, MONDO:0003900
Ehlers Danlos syndrome with a likely monogenic cause v2.55 MYLK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v2.55 MYLK Ivone Leong Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780
Ehlers Danlos syndrome with a likely monogenic cause v2.54 DCC Ivone Leong Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Ehlers Danlos syndrome with a likely monogenic cause v2.53 ACTA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis;moya moya syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.53 ACTA2 Ivone Leong Phenotypes for gene: ACTA2 were changed from Thoracic aortic aneurysm and dissection; Aortic aneurysm, familial thoracic 6; 611788; Moyamoya disease 5; 614042; Thoracic aneurysms congenital mydriasis; moya moya syndrome to Aortic aneurysm, familial thoracic 6, OMIM:611788
Ehlers Danlos syndrome with a likely monogenic cause v2.52 ABL1 Ivone Leong Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, 617602 to Congenital heart defects and skeletal malformations syndrome, OMIM:617602
Ehlers Danlos syndrome with a likely monogenic cause v2.51 ZNF469 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 1, 229200;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.51 ZNF469 Ivone Leong Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 1, OMIM:229200
Ehlers Danlos syndrome with a likely monogenic cause v2.50 TNXB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;Classical-like EDS;clEDS;Ehlers-Danlos syndrome, classic-like type
Ehlers Danlos syndrome with a likely monogenic cause v2.50 TNXB Ivone Leong Phenotypes for gene: TNXB were changed from Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; Classical-like EDS; clEDS; Ehlers-Danlos syndrome, classic-like type to Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
Ehlers Danlos syndrome with a likely monogenic cause v2.49 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome 2, 610168 to Loeys-Dietz syndrome 2, OMIM:610168
Ehlers Danlos syndrome with a likely monogenic cause v2.48 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192
Ehlers Danlos syndrome with a likely monogenic cause v2.47 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582
Ehlers Danlos syndrome with a likely monogenic cause v2.46 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816
Ehlers Danlos syndrome with a likely monogenic cause v2.45 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome 3, 613795 to Loeys-Dietz syndrome 3, OMIM:613795
Ehlers Danlos syndrome with a likely monogenic cause v2.44 SMAD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Loeys-Dietz syndrome;LDS3;arterial aneurysms and dissections
Ehlers Danlos syndrome with a likely monogenic cause v2.44 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome; LDS3; arterial aneurysms and dissections to Loeys-Dietz syndrome, MONDO:0018954
Ehlers Danlos syndrome with a likely monogenic cause v2.43 SLC39A13 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
Ehlers Danlos syndrome with a likely monogenic cause v2.43 SLC39A13 Ivone Leong Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
Ehlers Danlos syndrome with a likely monogenic cause v2.42 SKI Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
Ehlers Danlos syndrome with a likely monogenic cause v2.41 ROBO3 Ivone Leong Phenotypes for gene: ROBO3 were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Ehlers Danlos syndrome with a likely monogenic cause v2.40 RIN2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.40 RIN2 Ivone Leong Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Ehlers Danlos syndrome with a likely monogenic cause v2.39 PYCR1 Ivone Leong Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Ehlers Danlos syndrome with a likely monogenic cause v2.38 PRDM5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 2, 614170;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.38 PRDM5 Ivone Leong Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 2, OMIM:614170
Ehlers Danlos syndrome with a likely monogenic cause v2.37 PLOD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.37 PLOD1 Ivone Leong Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Ehlers Danlos syndrome with a likely monogenic cause v2.36 LTBP4 Ivone Leong Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177
Ehlers Danlos syndrome with a likely monogenic cause v2.35 LOX Ivone Leong Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Ehlers Danlos syndrome with a likely monogenic cause v2.34 GORAB Ivone Leong Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 to Geroderma osteodysplasticum, OMIM:231070
Ehlers Danlos syndrome with a likely monogenic cause v2.33 FKBP14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndrome with a likely monogenic cause v2.33 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Ehlers Danlos syndrome with a likely monogenic cause v2.32 FBN2 Ivone Leong Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050
Ehlers Danlos syndrome with a likely monogenic cause v2.31 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
Ehlers Danlos syndrome with a likely monogenic cause v2.30 FBLN5 Ivone Leong Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal dominant 2, 614434; Cutis laxa, autosomal recessive, type IA, 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Ehlers Danlos syndrome with a likely monogenic cause v2.29 ELN Ivone Leong Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700
Ehlers Danlos syndrome with a likely monogenic cause v2.28 EFEMP2 Ivone Leong Phenotypes for gene: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Ehlers Danlos syndrome with a likely monogenic cause v2.27 DSE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ehlers Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type;DSE-deficient EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.27 DSE Ivone Leong Phenotypes for gene: DSE were changed from ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Ehlers Danlos syndrome with a likely monogenic cause v2.26 COL6A3 Ivone Leong Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.25 COL6A2 Ivone Leong Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.24 COL6A1 Ivone Leong Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.23 COL5A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndrome with a likely monogenic cause v2.23 COL5A2 Ivone Leong Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
Ehlers Danlos syndrome with a likely monogenic cause v2.22 COL5A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndrome with a likely monogenic cause v2.22 COL5A1 Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
Ehlers Danlos syndrome with a likely monogenic cause v2.21 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.21 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Ehlers Danlos syndrome with a likely monogenic cause v2.20 COL1A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
Ehlers Danlos syndrome with a likely monogenic cause v2.20 COL1A2 Ivone Leong Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
Ehlers Danlos syndrome with a likely monogenic cause v2.19 COL1A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
Ehlers Danlos syndrome with a likely monogenic cause v2.19 COL1A1 Ivone Leong Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Ehlers Danlos syndrome with a likely monogenic cause v2.18 COL12A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myopathic EDS;mEDS;EDS/Myopathy overlap syndrome;Ehlers-Danlos syndrome, Myopathic type
Ehlers Danlos syndrome with a likely monogenic cause v2.18 COL12A1 Ivone Leong Phenotypes for gene: COL12A1 were changed from Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type to Bethlem myopathy 2, OMIM:616471
Ehlers Danlos syndrome with a likely monogenic cause v2.17 CHST14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.17 CHST14 Ivone Leong Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
Ehlers Danlos syndrome with a likely monogenic cause v2.16 CBS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
Ehlers Danlos syndrome with a likely monogenic cause v2.16 CBS Ivone Leong Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Ehlers Danlos syndrome with a likely monogenic cause v2.15 C1S Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 2, 617174;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII
Ehlers Danlos syndrome with a likely monogenic cause v2.15 C1S Ivone Leong Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome periodontal type 2, 617174; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII to Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174
Ehlers Danlos syndrome with a likely monogenic cause v2.14 C1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 1, 130080;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII;Ehlers-Danlos Syndrome periodontitis type;EDSVIII;EDSPD1
Ehlers Danlos syndrome with a likely monogenic cause v2.14 C1R Ivone Leong Phenotypes for gene: C1R were changed from Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1 to Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
Ehlers Danlos syndrome with a likely monogenic cause v2.13 BGN Ivone Leong Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989
Ehlers Danlos syndrome with a likely monogenic cause v2.12 B4GALT7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
Ehlers Danlos syndrome with a likely monogenic cause v2.12 B4GALT7 Ivone Leong Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
Ehlers Danlos syndrome with a likely monogenic cause v2.11 B3GALT6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause v2.11 B3GALT6 Ivone Leong Phenotypes for gene: B3GALT6 were changed from Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS; spEDS-B3GALT6; Progeroid EDS; Spondylodysplastic EDS due to B3GALT6-deficiency; EDS progeroid type 2; EDS B3GALT6 to Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640
Ehlers Danlos syndrome with a likely monogenic cause v2.10 ATP7A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxa
Ehlers Danlos syndrome with a likely monogenic cause v2.10 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa to Occipital horn syndrome, OMIM:304150
Ehlers Danlos syndrome with a likely monogenic cause v2.9 ATP6V1A Ivone Leong Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
Ehlers Danlos syndrome with a likely monogenic cause v2.8 ATP6V0A2 Ivone Leong Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 to Cutis laxa, autosomal recessive, type IIA, OMIM:219200; Wrinkly skin syndrome, OMIM:278250
Ehlers Danlos syndrome with a likely monogenic cause v2.7 ALDH18A1 Ivone Leong Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 to Cutis laxa, autosomal recessive, type IIIA, OMIM:219150; Cutis laxa, autosomal dominant 3, OMIM:616603
Ehlers Danlos syndrome with a likely monogenic cause v2.6 AEBP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome type;EDS type;Part of the EDS spectrum
Ehlers Danlos syndrome with a likely monogenic cause v2.6 AEBP1 Ivone Leong Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome type; EDS type; Part of the EDS spectrum to Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000
Ehlers Danlos syndrome with a likely monogenic cause v2.5 ADAMTS2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7C
Ehlers Danlos syndrome with a likely monogenic cause v2.5 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS; EDSVIIC; EDS7C to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Ehlers Danlos syndrome with a likely monogenic cause v2.4 TSC2 Arina Puzriakova Tag curated_removed tag was added to gene: TSC2.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 TSC1 Arina Puzriakova Tag curated_removed tag was added to gene: TSC1.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 SMAD4 Arina Puzriakova Tag curated_removed tag was added to gene: SMAD4.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 SERPINA1 Arina Puzriakova Tag curated_removed tag was added to gene: SERPINA1.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 PKD2 Arina Puzriakova Tag curated_removed tag was added to gene: PKD2.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 MED12 Arina Puzriakova Tag curated_removed tag was added to gene: MED12.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 GGCX Arina Puzriakova Tag curated_removed tag was added to gene: GGCX.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL9A3 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A3.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL9A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A2.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL9A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL2A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL2A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL11A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL11A2.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL11A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL11A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 ABCC6 Arina Puzriakova Tag curated_removed tag was added to gene: ABCC6.
Ehlers Danlos syndrome with a likely monogenic cause v2.4 EFEMP1 Zornitza Stark gene: EFEMP1 was added
gene: EFEMP1 was added to Ehlers Danlos syndromes. Sources: Literature
Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP1 were set to 32006683; 31792352
Phenotypes for gene: EFEMP1 were set to Connective tissue disorder
Review for gene: EFEMP1 was set to AMBER
Added comment: Monoallelic variants in this gene are associated with a retinal dystrophy. New publications linking bi-allelic variants to a connective tissue disease phenotype:

PMID 31792352 reports one individual with a pronounced connective tissue phenotype presenting multiple and recurrent abdominal and thoracic herniae, myopia, hypermobile joints, scoliosis, and thin translucent skin. This individual has no clinical signs of retinal dystrophy.

PMID 32006683 reports 2 homozygous siblings (consanguinous) with multiple and recurrent herniae, pelvic and rectal prolapse, huge diverticula, marfanoid habitus, joint laxity, dorsal scoliosis, advanced bone age, pectus excavatum, dysmorphic facial features, and myopia.

Both papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v2.4 Eleanor Williams Panel version has been signed off
Ehlers Danlos syndrome with a likely monogenic cause v2.3 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Ehlers Danlos syndrome with a likely monogenic cause v2.1 Ellen McDonagh List of related panels changed from Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes; R101 to Classical Ehlers Danlos Syndrome; Classical Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes; R101
Ehlers Danlos syndrome with a likely monogenic cause v2.0 Eleanor Williams promoted panel to version 2.0
Ehlers Danlos syndrome with a likely monogenic cause v1.64 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Ehlers Danlos syndrome with a likely monogenic cause v1.63 ACTA2 Eleanor Williams Mode of inheritance for gene: ACTA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ehlers Danlos syndrome with a likely monogenic cause v1.62 MYLK Eleanor Williams commented on gene: MYLK: This gene is associated with Familial thoracic aortic aneurysm. Although patients with variants in this gene may present with EDS features it was decided following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it to keep this gene amber. If more evidence of an overlap in phenotypes becomes available the rating can be reviewed.
Ehlers Danlos syndrome with a likely monogenic cause v1.62 Eleanor Williams List of related panels changed from Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes to Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes; R101
Ehlers Danlos syndrome with a likely monogenic cause v1.61 ABL1 Eleanor Williams changed review comment from: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel.; to: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. They advise that it does not need to be green on the EDS panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Classified gene: COL2A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Gene: col2a1 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.60 ABL1 Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.60 ABL1 Eleanor Williams Added comment: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.60 ABL1 Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v1.58 SMAD4 Eleanor Williams Classified gene: SMAD4 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.58 SMAD4 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove this gene from the panel as there is not enough overlap with the EDS phenotype.
Ehlers Danlos syndrome with a likely monogenic cause v1.58 SMAD4 Eleanor Williams Gene: smad4 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.57 COL9A3 Eleanor Williams Classified gene: COL9A3 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.57 COL9A3 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.57 COL9A3 Eleanor Williams Gene: col9a3 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.56 COL9A2 Eleanor Williams Classified gene: COL9A2 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.56 COL9A2 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.56 COL9A2 Eleanor Williams Gene: col9a2 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.55 COL9A1 Eleanor Williams Classified gene: COL9A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.55 COL9A1 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.55 COL9A1 Eleanor Williams Gene: col9a1 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.54 COL11A2 Eleanor Williams Classified gene: COL11A2 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.54 COL11A2 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.54 COL11A2 Eleanor Williams Gene: col11a2 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.53 COL11A1 Eleanor Williams Classified gene: COL11A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.53 COL11A1 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.53 COL11A1 Eleanor Williams Gene: col11a1 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.52 GGCX Eleanor Williams Classified gene: GGCX as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.52 GGCX Eleanor Williams Added comment: Comment on list classification: Following discussion at the GMS musculoskeletal specialist test group Webex on 2019-06-04, removing this gene from the panel as the associated PXE phenotype is beyond the scope of this panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.52 GGCX Eleanor Williams Gene: ggcx has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.51 ABCC6 Eleanor Williams Classified gene: ABCC6 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.51 ABCC6 Eleanor Williams Added comment: Comment on list classification: Following discussion at the GMS musculoskeletal specialist test group Webex on 2019-06-04, removing this gene from the panel as the associated PXE phenotype is beyond the scope of this panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.51 ABCC6 Eleanor Williams Gene: abcc6 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.50 COL11A2 Eleanor Williams Phenotypes for gene: COL11A2 were changed from Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders; autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840; autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Ehlers Danlos syndrome with a likely monogenic cause v1.49 COL9A3 Eleanor Williams Phenotypes for gene: COL9A3 were changed from Stickler syndrome VI; Connective Tissue Disorders; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 to Stickler syndrome VI; Connective Tissue Disorders; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969; Multiple epiphyseal dysplasia
Ehlers Danlos syndrome with a likely monogenic cause v1.48 COL9A2 Eleanor Williams Phenotypes for gene: COL9A2 were changed from Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders; Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Ehlers Danlos syndrome with a likely monogenic cause v1.47 COL9A1 Eleanor Williams Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders to Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders; ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Ehlers Danlos syndrome with a likely monogenic cause v1.46 NOTCH1 Eleanor Williams Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm to Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndrome with a likely monogenic cause v1.45 SMAD4 Eleanor Williams Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT); ~20% with connective tissue features.
Ehlers Danlos syndrome with a likely monogenic cause v1.44 MYLK Eleanor Williams Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm to Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TNXB Louise Daugherty edited their review of gene: TNXB: Changed rating: GREEN
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ZNF469 Duncan Baker reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TNXB Duncan Baker reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFBR2 Duncan Baker reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFBR1 Duncan Baker reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFB3 Duncan Baker reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFB2 Duncan Baker reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD3 Duncan Baker reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD2 Duncan Baker reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SLC39A13 Duncan Baker reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SKI Duncan Baker reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ROBO3 Duncan Baker reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 RIN2 Duncan Baker reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PYCR1 Duncan Baker reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PRDM5 Duncan Baker reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PLOD1 Duncan Baker reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 LTBP4 Duncan Baker reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 LOX Duncan Baker reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 GORAB Duncan Baker reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FKBP14 Duncan Baker reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBN2 Duncan Baker reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBN1 Duncan Baker reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBLN5 Duncan Baker reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ELN Duncan Baker reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 EFEMP2 Duncan Baker reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 DSE Duncan Baker reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL6A3 Duncan Baker reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL6A2 Duncan Baker reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL6A1 Duncan Baker reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL5A2 Duncan Baker reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL5A1 Duncan Baker reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL3A1 Duncan Baker reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL1A2 Duncan Baker reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL1A1 Duncan Baker reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL12A1 Duncan Baker reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 CHST14 Duncan Baker reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 CBS Duncan Baker reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 C1S Duncan Baker reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 C1R Duncan Baker reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 BGN Duncan Baker reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 B4GALT7 Duncan Baker reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 B3GALT6 Duncan Baker reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ATP7A Duncan Baker reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ATP6V1A Duncan Baker reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ATP6V0A2 Duncan Baker reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ALDH18A1 Duncan Baker reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 AEBP1 Duncan Baker reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ADAMTS2 Duncan Baker reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ABCC6 Duncan Baker edited their review of gene: ABCC6: Added comment: Following discussion with Dr G Sobey & Dr F van Dijk - rate red; Changed phenotypes: Pseudoxanthoma elasticum OMIM 264800
Ehlers Danlos syndrome with a likely monogenic cause v1.43 GGCX Duncan Baker edited their review of gene: GGCX: Added comment: Following discussion with Dr G Sobey & Dr F van Dijk - rate red; Changed phenotypes: Pseudoxanthoma elasticum-like disorder
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL11A2 Duncan Baker edited their review of gene: COL11A2: Changed phenotypes: autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840, autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL11A1 Duncan Baker edited their review of gene: COL11A1: Changed phenotypes: Marshal syndrome, Stickler syndrome, type II 604841
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL2A1 Duncan Baker edited their review of gene: COL2A1: Changed phenotypes: Stickler syndrome
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A3 Duncan Baker edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969, Multiple epiphyseal dysplasia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A2 Duncan Baker edited their review of gene: COL9A2: Changed phenotypes: ?Stickler syndrome, type V614284, Epiphyseal dysplasia, multiple, 2 600204, Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A1 Duncan Baker edited their review of gene: COL9A1: Changed phenotypes: Stickler syndrome, type IV 614134, ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 NOTCH1 Duncan Baker commented on gene: NOTCH1: Following discussion with Dr Diana Johnson - rate red
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD4 Duncan Baker edited their review of gene: SMAD4: Changed phenotypes: juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT), ~20% with connective tissue features.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 MYLK Duncan Baker edited their review of gene: MYLK: Changed phenotypes: aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ZNF469 Eleanor Williams reviewed gene: ZNF469: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TNXB Eleanor Williams reviewed gene: TNXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFBR2 Eleanor Williams reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFBR1 Eleanor Williams reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFB3 Eleanor Williams reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFB2 Eleanor Williams reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD3 Eleanor Williams reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD2 Eleanor Williams reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SLC39A13 Eleanor Williams reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SKI Eleanor Williams reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ROBO3 Eleanor Williams reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 RIN2 Eleanor Williams reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PYCR1 Eleanor Williams reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PRDM5 Eleanor Williams reviewed gene: PRDM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PLOD1 Eleanor Williams reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 LTBP4 Eleanor Williams reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 LOX Eleanor Williams reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 GORAB Eleanor Williams reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FKBP14 Eleanor Williams reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBN2 Eleanor Williams reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBN1 Eleanor Williams reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBLN5 Eleanor Williams reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ELN Eleanor Williams reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 EFEMP2 Eleanor Williams reviewed gene: EFEMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 DSE Eleanor Williams reviewed gene: DSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL6A3 Eleanor Williams reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL6A2 Eleanor Williams reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL6A1 Eleanor Williams reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL5A2 Eleanor Williams reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL5A1 Eleanor Williams reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL3A1 Eleanor Williams reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL1A2 Eleanor Williams reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL1A1 Eleanor Williams reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL12A1 Eleanor Williams reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 CHST14 Eleanor Williams reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 CBS Eleanor Williams reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 C1S Eleanor Williams reviewed gene: C1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 C1R Eleanor Williams reviewed gene: C1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 BGN Eleanor Williams reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 B4GALT7 Eleanor Williams reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 B3GALT6 Eleanor Williams reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ATP7A Eleanor Williams reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ATP6V1A Eleanor Williams reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ATP6V0A2 Eleanor Williams reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ALDH18A1 Eleanor Williams reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 AEBP1 Eleanor Williams reviewed gene: AEBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ADAMTS2 Eleanor Williams reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ABCC6 Eleanor Williams reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 GGCX Eleanor Williams reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL11A2 Eleanor Williams reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL2A1 Eleanor Williams reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A2 Eleanor Williams reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A1 Eleanor Williams reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 NOTCH1 Eleanor Williams reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD4 Eleanor Williams reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 MYLK Eleanor Williams reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ZNF469 Eleanor Williams Source NHS GMS was added to ZNF469.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TNXB Eleanor Williams Source NHS GMS was added to TNXB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFBR2 Eleanor Williams Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFBR1 Eleanor Williams Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFB3 Eleanor Williams Source NHS GMS was added to TGFB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 TGFB2 Eleanor Williams Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD3 Eleanor Williams Source NHS GMS was added to SMAD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD2 Eleanor Williams Source NHS GMS was added to SMAD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SLC39A13 Eleanor Williams Source NHS GMS was added to SLC39A13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SKI Eleanor Williams Source NHS GMS was added to SKI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ROBO3 Eleanor Williams Source NHS GMS was added to ROBO3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 RIN2 Eleanor Williams Source NHS GMS was added to RIN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PYCR1 Eleanor Williams Source NHS GMS was added to PYCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PRDM5 Eleanor Williams Source NHS GMS was added to PRDM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PLOD1 Eleanor Williams Source NHS GMS was added to PLOD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 LTBP4 Eleanor Williams Source NHS GMS was added to LTBP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 LOX Eleanor Williams Source NHS GMS was added to LOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FKBP14 Eleanor Williams Source NHS GMS was added to FKBP14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBN2 Eleanor Williams Source NHS GMS was added to FBN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBN1 Eleanor Williams Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBLN5 Eleanor Williams Source NHS GMS was added to FBLN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ELN Eleanor Williams Source NHS GMS was added to ELN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 EFEMP2 Eleanor Williams Source NHS GMS was added to EFEMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 DSE Eleanor Williams Source NHS GMS was added to DSE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL6A3 Eleanor Williams Source NHS GMS was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL6A2 Eleanor Williams Source NHS GMS was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL6A1 Eleanor Williams Source NHS GMS was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL5A2 Eleanor Williams Source NHS GMS was added to COL5A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL5A1 Eleanor Williams Source NHS GMS was added to COL5A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL3A1 Eleanor Williams Source NHS GMS was added to COL3A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL12A1 Eleanor Williams Source NHS GMS was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 CHST14 Eleanor Williams Source NHS GMS was added to CHST14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 CBS Eleanor Williams Source NHS GMS was added to CBS.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 C1S Eleanor Williams Source NHS GMS was added to C1S.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 C1R Eleanor Williams Source NHS GMS was added to C1R.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 BGN Eleanor Williams Source NHS GMS was added to BGN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ATP7A Eleanor Williams Source NHS GMS was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ATP6V1A Eleanor Williams Source NHS GMS was added to ATP6V1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ATP6V0A2 Eleanor Williams Source NHS GMS was added to ATP6V0A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ALDH18A1 Eleanor Williams Source NHS GMS was added to ALDH18A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 AEBP1 Eleanor Williams Source NHS GMS was added to AEBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ADAMTS2 Eleanor Williams Source NHS GMS was added to ADAMTS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ABCC6 Eleanor Williams Source NHS GMS was added to ABCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 GGCX Eleanor Williams Source NHS GMS was added to GGCX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL2A1 Eleanor Williams Source NHS GMS was added to COL2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A3 Eleanor Williams Source NHS GMS was added to COL9A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A2 Eleanor Williams Source NHS GMS was added to COL9A2.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A1 Eleanor Williams Source NHS GMS was added to COL9A1.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 NOTCH1 Eleanor Williams Source NHS GMS was added to NOTCH1.
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD4 Eleanor Williams Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.41 MYLK Eleanor Williams Source NHS GMS was added to MYLK.
Ehlers Danlos syndrome with a likely monogenic cause v1.40 GGCX Duncan Baker reviewed gene: GGCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 ABCC6 Duncan Baker edited their review of gene: ABCC6: Added comment: Genes for PXE are not required for this panel; Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 ABCC6 Duncan Baker commented on gene: ABCC6
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL11A2 Duncan Baker reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 184840 autosomal dominant otospondylomegaepiphyseal dysplasia, OMIM 215150 utosomal recessive otospondylomegaepiphyseal dysplasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL11A1 Duncan Baker reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: omim 145780 Marshal syndrome, OMIM 604841 Stickler syndrom II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL2A1 Duncan Baker reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 120140 Stickler syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A3 Duncan Baker reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple epiphyseal dysplasia; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A2 Duncan Baker reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A1 Duncan Baker reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 NOTCH1 Duncan Baker reviewed gene: NOTCH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bicuspid, or bicommissural, aortic valve (BAV); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause v1.40 SMAD4 Duncan Baker reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v1.40 MYLK Duncan Baker reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause v1.40 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndrome with a likely monogenic cause v1.38 ABL1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants).
Ehlers Danlos syndrome with a likely monogenic cause v1.38 ABL1 Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ehlers Danlos syndrome with a likely monogenic cause v1.37 ABL1 Rebecca Foulger Classified gene: ABL1 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.37 ABL1 Rebecca Foulger Added comment: Comment on list classification: Rated as Green as advised by Helen Brittain.
Ehlers Danlos syndrome with a likely monogenic cause v1.37 ABL1 Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v1.36 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to Ehlers Danlos syndromes. Sources: Literature
missense tags were added to gene: ABL1.
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ABL1 was set to GREEN
Added comment: Added ABL1 to EDS panel as requested by Helen Brittain, clinical fellow. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. 2 variants reported in 4 families, including c.734A>G (p.Tyr245Cys) found to occur in 3 famililes. Included on this EDS panel on advice from Helen Brittain: the kyphosis / scoliosis / velvety skin could overlap with the EDS syndromes panel as a mimic of kyphoscoliotic EDS.
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v1.35 Ellen McDonagh Panel name changed from Ehlers-Danlos syndromes to Ehlers Danlos syndromes
List of related panels changed from Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS to Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes
Ehlers Danlos syndrome with a likely monogenic cause v1.34 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty classified SMAD2 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty edited their review of gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty reviewed gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Anna de Burca Added gene to panel
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Louise Daugherty classified AEBP1 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Louise Daugherty edited their review of AEBP1
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Louise Daugherty commented on AEBP1
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Sarah Leigh classified AEBP1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Louise Daugherty classified AEBP1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Sarah Leigh classified AEBP1 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause AEBP1 Sarah Leigh Added gene to panel
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty commented on PIEZO2
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty classified PIEZO2 as amber
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty added PIEZO2 to panel
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty reviewed PIEZO2
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Louise Daugherty commented on ROBO3
Ehlers Danlos syndrome with a likely monogenic cause DCC Louise Daugherty commented on DCC
Ehlers Danlos syndrome with a likely monogenic cause DCC Sarah Leigh classified DCC as amber
Ehlers Danlos syndrome with a likely monogenic cause DCC Sarah Leigh added DCC to panel
Ehlers Danlos syndrome with a likely monogenic cause DCC Sarah Leigh reviewed DCC
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Sarah Leigh classified ROBO3 as green
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Sarah Leigh added ROBO3 to panel
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Sarah Leigh reviewed ROBO3
Ehlers Danlos syndrome with a likely monogenic cause Louise Daugherty promoted panel to version 1
Ehlers Danlos syndrome with a likely monogenic cause FLNA Helen Brittain edited their review of FLNA
Ehlers Danlos syndrome with a likely monogenic cause FLNA Helen Brittain commented on FLNA
Ehlers Danlos syndrome with a likely monogenic cause ACTA2 Helen Brittain commented on ACTA2
Ehlers Danlos syndrome with a likely monogenic cause SLC2A10 Helen Brittain reviewed SLC2A10
Ehlers Danlos syndrome with a likely monogenic cause MYH11 Helen Brittain reviewed MYH11
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Helen Brittain reviewed NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause ACTA2 Louise Daugherty classified ACTA2 as amber
Ehlers Danlos syndrome with a likely monogenic cause MYLK Helen Brittain reviewed MYLK
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Louise Daugherty classified NOTCH1 as amber
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Louise Daugherty commented on NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty classified MYLK as amber
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty classified GORAB as green
Ehlers Danlos syndrome with a likely monogenic cause GORAB Helen Brittain reviewed GORAB
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty classified FLCN as red
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Louise Daugherty classified NOTCH1 as green
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty classified MYLK as green
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty classified MYLK as green
Ehlers Danlos syndrome with a likely monogenic cause ACTA2 Louise Daugherty classified ACTA2 as green
Ehlers Danlos syndrome with a likely monogenic cause ACTA2 Louise Daugherty commented on ACTA2
Ehlers Danlos syndrome with a likely monogenic cause GGCX Louise Daugherty classified GGCX as green
Ehlers Danlos syndrome with a likely monogenic cause ABCC6 Louise Daugherty classified ABCC6 as green
Ehlers Danlos syndrome with a likely monogenic cause ABCC6 Louise Daugherty reviewed ABCC6
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Louise Daugherty classified ATP6V1A as green
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Louise Daugherty reviewed ATP6V1A
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty edited their review of DSE
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as green
Ehlers Danlos syndrome with a likely monogenic cause SLC2A10 Angela Brady reviewed SLC2A10
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Angela Brady reviewed PLOD3
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Angela Brady reviewed NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause MYLK Angela Brady reviewed MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYH11 Angela Brady reviewed MYH11
Ehlers Danlos syndrome with a likely monogenic cause GGCX Angela Brady reviewed GGCX
Ehlers Danlos syndrome with a likely monogenic cause FLNA Angela Brady reviewed FLNA
Ehlers Danlos syndrome with a likely monogenic cause COX7B Angela Brady reviewed COX7B
Ehlers Danlos syndrome with a likely monogenic cause ACVR1 Angela Brady reviewed ACVR1
Ehlers Danlos syndrome with a likely monogenic cause ACTA2 Angela Brady reviewed ACTA2
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Angela Brady reviewed ATP6V1A
Ehlers Danlos syndrome with a likely monogenic cause DSE Angela Brady reviewed DSE
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Angela Brady reviewed ZNF469
Ehlers Danlos syndrome with a likely monogenic cause TNXB Angela Brady reviewed TNXB
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Angela Brady reviewed TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Angela Brady reviewed TGFBR1
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Angela Brady reviewed TGFB3
Ehlers Danlos syndrome with a likely monogenic cause TGFB2 Angela Brady reviewed TGFB2
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Angela Brady reviewed SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Angela Brady reviewed SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Angela Brady reviewed SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause SKI Angela Brady reviewed SKI
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Angela Brady reviewed RIN2
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Angela Brady reviewed PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Angela Brady reviewed PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Angela Brady reviewed PLOD1
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Angela Brady reviewed LTBP4
Ehlers Danlos syndrome with a likely monogenic cause LOX Angela Brady reviewed LOX
Ehlers Danlos syndrome with a likely monogenic cause GORAB Angela Brady reviewed GORAB
Ehlers Danlos syndrome with a likely monogenic cause FLCN Angela Brady reviewed FLCN
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Angela Brady reviewed FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Angela Brady reviewed FBN2
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Angela Brady reviewed FBN1
Ehlers Danlos syndrome with a likely monogenic cause FBLN5 Angela Brady reviewed FBLN5
Ehlers Danlos syndrome with a likely monogenic cause ELN Angela Brady reviewed ELN
Ehlers Danlos syndrome with a likely monogenic cause EFEMP2 Angela Brady reviewed EFEMP2
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Angela Brady reviewed COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Angela Brady reviewed COL9A2
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Angela Brady reviewed COL9A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Angela Brady reviewed COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Angela Brady reviewed COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Angela Brady reviewed COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Angela Brady reviewed COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Angela Brady reviewed COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Angela Brady reviewed COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Angela Brady reviewed COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Angela Brady reviewed COL1A2
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Angela Brady reviewed COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Angela Brady reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Angela Brady reviewed COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Angela Brady reviewed COL11A1
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Angela Brady reviewed CHST14
Ehlers Danlos syndrome with a likely monogenic cause CBS Angela Brady reviewed CBS
Ehlers Danlos syndrome with a likely monogenic cause C1S Angela Brady reviewed C1S
Ehlers Danlos syndrome with a likely monogenic cause C1R Angela Brady reviewed C1R
Ehlers Danlos syndrome with a likely monogenic cause BGN Angela Brady reviewed BGN
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Angela Brady reviewed B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Angela Brady reviewed B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Angela Brady reviewed ATP7A
Ehlers Danlos syndrome with a likely monogenic cause ATP6V0A2 Angela Brady reviewed ATP6V0A2
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Angela Brady reviewed ALDH18A1
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Angela Brady reviewed ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause SLC2A10 Neeti Ghali reviewed SLC2A10
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Neeti Ghali reviewed PLOD3
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Neeti Ghali reviewed NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause MYLK Neeti Ghali reviewed MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYH11 Neeti Ghali reviewed MYH11
Ehlers Danlos syndrome with a likely monogenic cause GGCX Neeti Ghali reviewed GGCX
Ehlers Danlos syndrome with a likely monogenic cause FLNA Neeti Ghali reviewed FLNA
Ehlers Danlos syndrome with a likely monogenic cause COX7B Neeti Ghali reviewed COX7B
Ehlers Danlos syndrome with a likely monogenic cause ACVR1 Neeti Ghali reviewed ACVR1
Ehlers Danlos syndrome with a likely monogenic cause ACTA2 Neeti Ghali reviewed ACTA2
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Neeti Ghali reviewed ATP6V1A
Ehlers Danlos syndrome with a likely monogenic cause DSE Neeti Ghali reviewed DSE
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Neeti Ghali reviewed ZNF469
Ehlers Danlos syndrome with a likely monogenic cause TNXB Neeti Ghali reviewed TNXB
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Neeti Ghali reviewed TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Neeti Ghali reviewed TGFBR1
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Neeti Ghali reviewed TGFB3
Ehlers Danlos syndrome with a likely monogenic cause TGFB2 Neeti Ghali reviewed TGFB2
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Neeti Ghali reviewed SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Neeti Ghali reviewed SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Neeti Ghali reviewed SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause SKI Neeti Ghali reviewed SKI
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Neeti Ghali reviewed RIN2
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Neeti Ghali reviewed PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Neeti Ghali reviewed PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Neeti Ghali reviewed PLOD1
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Neeti Ghali reviewed LTBP4
Ehlers Danlos syndrome with a likely monogenic cause LOX Neeti Ghali reviewed LOX
Ehlers Danlos syndrome with a likely monogenic cause GORAB Neeti Ghali reviewed GORAB
Ehlers Danlos syndrome with a likely monogenic cause FLCN Neeti Ghali reviewed FLCN
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Neeti Ghali reviewed FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Neeti Ghali reviewed FBN2
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Neeti Ghali reviewed FBN1
Ehlers Danlos syndrome with a likely monogenic cause FBLN5 Neeti Ghali reviewed FBLN5
Ehlers Danlos syndrome with a likely monogenic cause ELN Neeti Ghali reviewed ELN
Ehlers Danlos syndrome with a likely monogenic cause EFEMP2 Neeti Ghali reviewed EFEMP2
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Neeti Ghali reviewed COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Neeti Ghali reviewed COL9A2
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Neeti Ghali reviewed COL9A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Neeti Ghali reviewed COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Neeti Ghali reviewed COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Neeti Ghali reviewed COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Neeti Ghali reviewed COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Neeti Ghali reviewed COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Neeti Ghali reviewed COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Neeti Ghali reviewed COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Neeti Ghali reviewed COL1A2
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Neeti Ghali reviewed COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Neeti Ghali reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Neeti Ghali reviewed COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Neeti Ghali reviewed COL11A1
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Neeti Ghali reviewed CHST14
Ehlers Danlos syndrome with a likely monogenic cause CBS Neeti Ghali reviewed CBS
Ehlers Danlos syndrome with a likely monogenic cause C1S Neeti Ghali reviewed C1S
Ehlers Danlos syndrome with a likely monogenic cause C1R Neeti Ghali reviewed C1R
Ehlers Danlos syndrome with a likely monogenic cause BGN Neeti Ghali reviewed BGN
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Neeti Ghali reviewed B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Neeti Ghali reviewed B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Neeti Ghali reviewed ATP7A
Ehlers Danlos syndrome with a likely monogenic cause ATP6V0A2 Neeti Ghali reviewed ATP6V0A2
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Neeti Ghali reviewed ALDH18A1
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Neeti Ghali reviewed ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty edited their review of SMAD4
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Ellen Thomas added ATP6V1A to panel
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Ellen Thomas reviewed ATP6V1A
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty classified FLCN as green
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty edited their review of ATP7A
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty classified FLCN as grey
Ehlers Danlos syndrome with a likely monogenic cause MED12 Louise Daugherty classified MED12 as grey
Ehlers Danlos syndrome with a likely monogenic cause CBS Louise Daugherty commented on CBS
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty classified ATP7A as green
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty commented on ATP7A
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Louise Daugherty classified RIN2 as green
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Louise Daugherty edited their review of RIN2
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Louise Daugherty commented on RIN2
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty edited their review of PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty classified PYCR1 as green
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty commented on PYCR1
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Louise Daugherty classified LTBP4 as green
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Louise Daugherty edited their review of LTBP4
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Louise Daugherty commented on LTBP4
Ehlers Danlos syndrome with a likely monogenic cause FBLN5 Louise Daugherty classified FBLN5 as green
Ehlers Danlos syndrome with a likely monogenic cause FBLN5 Louise Daugherty commented on FBLN5
Ehlers Danlos syndrome with a likely monogenic cause ELN Louise Daugherty classified ELN as green
Ehlers Danlos syndrome with a likely monogenic cause ELN Louise Daugherty commented on ELN
Ehlers Danlos syndrome with a likely monogenic cause EFEMP2 Louise Daugherty classified EFEMP2 as green
Ehlers Danlos syndrome with a likely monogenic cause EFEMP2 Louise Daugherty reviewed EFEMP2
Ehlers Danlos syndrome with a likely monogenic cause ATP6V0A2 Louise Daugherty classified ATP6V0A2 as green
Ehlers Danlos syndrome with a likely monogenic cause ATP6V0A2 Louise Daugherty reviewed ATP6V0A2
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Louise Daugherty edited their review of ALDH18A1
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Louise Daugherty classified ALDH18A1 as green
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Louise Daugherty commented on ALDH18A1
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty commented on GORAB
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty classified GORAB as green
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty added GORAB to panel
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty reviewed GORAB
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty commented on COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty classified COL9A3 as green
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty edited their review of COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty commented on COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Louise Daugherty commented on COL9A2
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Louise Daugherty commented on COL9A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Louise Daugherty commented on COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Louise Daugherty commented on COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty edited their review of COL11A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty classified COL11A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty commented on COL11A1
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty commented on FLCN
Ehlers Danlos syndrome with a likely monogenic cause GGCX Louise Daugherty commented on GGCX
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty commented on ATP7A
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty classified LOX as green
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty commented on LOX
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty edited their review of LOX
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty commented on TGFB3
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty classified TGFB3 as green
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty edited their review of TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFB2 Louise Daugherty classified TGFB2 as green
Ehlers Danlos syndrome with a likely monogenic cause BGN Louise Daugherty classified BGN as green
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty commented on MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYH11 Louise Daugherty commented on MYH11
Ehlers Danlos syndrome with a likely monogenic cause MED12 Louise Daugherty commented on MED12
Ehlers Danlos syndrome with a likely monogenic cause TGFB2 Louise Daugherty commented on TGFB2
Ehlers Danlos syndrome with a likely monogenic cause SLC2A10 Louise Daugherty commented on SLC2A10
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty commented on ATP7A
Ehlers Danlos syndrome with a likely monogenic cause CBS Louise Daugherty commented on CBS
Ehlers Danlos syndrome with a likely monogenic cause PKD2 Louise Daugherty classified PKD2 as grey
Ehlers Danlos syndrome with a likely monogenic cause PKD2 Louise Daugherty commented on PKD2
Ehlers Danlos syndrome with a likely monogenic cause TSC2 Louise Daugherty classified TSC2 as grey
Ehlers Danlos syndrome with a likely monogenic cause TSC2 Louise Daugherty commented on TSC2
Ehlers Danlos syndrome with a likely monogenic cause TSC1 Louise Daugherty classified TSC1 as grey
Ehlers Danlos syndrome with a likely monogenic cause TSC1 Louise Daugherty commented on TSC1
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty commented on TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Louise Daugherty commented on TGFBR1
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty edited their review of SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty edited their review of SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SKI Louise Daugherty edited their review of SKI
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Louise Daugherty edited their review of FBN2
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty edited their review of COL6A2
Ehlers Danlos syndrome with a likely monogenic cause SERPINA1 Louise Daugherty classified SERPINA1 as grey
Ehlers Danlos syndrome with a likely monogenic cause SERPINA1 Louise Daugherty commented on SERPINA1
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty added LOX to panel
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty reviewed LOX
Ehlers Danlos syndrome with a likely monogenic cause BGN Louise Daugherty added BGN to panel
Ehlers Danlos syndrome with a likely monogenic cause BGN Louise Daugherty reviewed BGN
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty added TGFB3 to panel
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty reviewed TGFB3
Ehlers Danlos syndrome with a likely monogenic cause SKI Louise Daugherty classified SKI as green
Ehlers Danlos syndrome with a likely monogenic cause SKI Louise Daugherty commented on SKI
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Louise Daugherty classified FBN2 as green
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Louise Daugherty commented on FBN2
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty classified SMAD4 as green
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty commented on SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty edited their review of SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty classified SMAD3 as green
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty commented on SMAD3
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty classified TGFBR2 as green
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Louise Daugherty classified TGFBR1 as green
Ehlers Danlos syndrome with a likely monogenic cause FLNA Louise Daugherty commented on FLNA
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as amber
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty classified ZNF469 as green
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty classified PRDM5 as green
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty edited their review of PRDM5
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty classified COL6A3 as green
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty classified COL6A2 as green
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty classified COL6A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty commented on COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty commented on COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty commented on COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty commented on COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty reviewed COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty commented on COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty edited their review of COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty reviewed COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty added COL6A3 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty reviewed COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty added COL6A2 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty reviewed COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty added COL6A1 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty reviewed COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty classified C1S as green
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty edited their review of C1S
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty classified C1R as green
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty edited their review of C1R
Ehlers Danlos syndrome with a likely monogenic cause TPSAB1 Louise Daugherty added TPSAB1 to panel
Ehlers Danlos syndrome with a likely monogenic cause TPSAB1 Louise Daugherty reviewed TPSAB1
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty edited their review of C1S
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty commented on ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty commented on ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty commented on COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty edited their review of COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty commented on COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Louise Daugherty commented on COL1A2
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty commented on COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty commented on COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty edited their review of COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty commented on COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty edited their review of COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty commented on COL5A1
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty commented on PLOD3
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Louise Daugherty reviewed FBN1
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty reviewed TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Louise Daugherty reviewed TGFBR1
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty classified PRDM5 as amber
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty classified ZNF469 as amber
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty classified C1S as amber
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty commented on C1S
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty commented on C1S
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as amber
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as amber
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as amber
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty edited their review of DSE
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty classified C1R as amber
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty edited their review of C1R
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty commented on C1R
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty commented on C1R
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty edited their review of DSE
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as amber
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty added COL12A1 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty reviewed ATP7A
Ehlers Danlos syndrome with a likely monogenic cause FLNA Louise Daugherty reviewed FLNA
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty edited their review of CHST14
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty commented on SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty edited their review of ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Louise Daugherty commented on COL1A2
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty added DSE to panel
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty reviewed DSE
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty commented on C1S
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty commented on C1R
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty added C1R to panel
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty reviewed C1R
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty added C1S to panel
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty reviewed C1S
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty commented on ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty commented on PLOD3
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty classified B4GALT7 as green
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty edited their review of B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty edited their review of B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty edited their review of SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty classified B3GALT6 as green
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty commented on SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty edited their review of PLOD3
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty added PLOD3 to panel
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty reviewed PLOD3
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Raymond Dalgleish reviewed B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Raymond Dalgleish reviewed B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause Ellen McDonagh approved panel