The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Ehlers Danlos syndrome with a likely monogenic cause (Version 3.12)

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders

Relevant disorders: 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
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (22 Mar 2023)
Previously signed off versions: v2.3
Previous code: 588728f38f62030cf7152165

Description

This panel is used for clinical indication 'R101 Ehlers Danlos syndrome with a likely monogenic cause' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R101 Ehlers Danlos syndrome with a likely monogenic cause'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is designed for analysis of families with a working or clinical diagnosis of any of the Ehlers-Danlos syndromes subtypes set out in 'The 2017 international classification of the Ehlers–Danlos syndromes' Malfait et al., 2017 (PMID: 28306229).

In addition, this panel has been designed to capture the main differential diagnoses for these syndromes, including connective tissue phenotypes associated with vascular disease. Where participants have a vascular phenotype, as defined by the submitted HPO terms, they will be offered the Familial Thoracic Aortic Aneurysm Disease panel in addition, to capture aetiologies associated with an isolated vascular phenotype.

Clinical EDS subtypes included:
• Classical EDS
• Classical-like EDS
• Cardiac-valvular EDS
• Vascular EDS
• Hypermobile EDS
• Arthrochalasia EDS
• Dermatosparaxis EDS
• Kyphoscoliotic EDS
• Brittle Cornea syndrome
• Spondylodysplastic EDS
• Musculocontractural EDS
• Myopathic EDS
• Periodontal EDS

This panel was reviewed by several members of The Ehlers Danlos Society, to find out more about the society see : https://ehlers-danlos.com

Panel Activity

19 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Raymond Dalgleish (University of Leicester)

Group: GeCIP domain
Workplace: Research lab
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Neeti Ghali (NWTRGS, Northwick Park Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Angela Brady (Nhs)

Group: GeCIP domain
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Duncan Baker (Sheffield Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

Group: Other
Workplace: Other diagnostic lab
Mafalda Gomes (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

80 Entities

80 reviewed, 47 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 80 Entitiess
Green Green List (high evidence)	ADAMTS2	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410 Tags
Green Green List (high evidence)	AEBP1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000 Tags
Green Green List (high evidence)	ALDH18A1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIIA, OMIM:219150 Cutis laxa, autosomal dominant 3, OMIM:616603 Tags
Green Green List (high evidence)	ATP6V0A2	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIA, OMIM:219200 Wrinkly skin syndrome, OMIM:278250 Tags
Green Green List (high evidence)	ATP6V1A	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IID, OMIM:617403 Tags
Green Green List (high evidence)	ATP7A	6 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Phenotypes Occipital horn syndrome, OMIM:304150 Tags
Green Green List (high evidence)	B3GALT6	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640 Tags
Green Green List (high evidence)	B4GALT7	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070 Tags
Green Green List (high evidence)	BGN	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Other Phenotypes Meester-Loeys syndrome, OMIM:300989 Tags
Green Green List (high evidence)	C1R	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080 Tags
Green Green List (high evidence)	C1S	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174 Tags
Green Green List (high evidence)	CBS	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Phenotypes Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200 Tags treatable
Green Green List (high evidence)	CHST14	9 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Expert Review Green Literature NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776 Tags
Green Green List (high evidence)	COL12A1	7 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bethlem myopathy 2, OMIM:616471 Bethlem myopathy 2, MONDO:0034022 Tags
Green Green List (high evidence)	COL1A1	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115 Tags
Green Green List (high evidence)	COL1A2	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Green Green List (high evidence)	COL3A1	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050 Tags
Green Green List (high evidence)	COL5A1	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, classic type, 1, OMIM:130000 Tags
Green Green List (high evidence)	COL5A2	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, classic type, 2, OMIM:130010 Tags
Green Green List (high evidence)	COL6A1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A2	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bethlem myopathy 1,OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	COL6A3	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green Green List (high evidence)	DSE	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539 Tags missense
Green Green List (high evidence)	EFEMP2	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IB, OMIM:614437 Tags
Green Green List (high evidence)	ELN	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cutis laxa, autosomal dominant, OMIM:123700 Tags
Green Green List (high evidence)	FBLN5	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100 Tags
Green Green List (high evidence)	FBN1	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Phenotypes Marfan syndrome, OMIM:154700 Tags
Green Green List (high evidence)	FBN2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Contractural arachnodactyly, congenital, OMIM:121050 Tags
Green Green List (high evidence)	FKBP14	9 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 Tags
Green Green List (high evidence)	GORAB	6 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Phenotypes Geroderma osteodysplasticum, OMIM:231070 Tags
Green Green List (high evidence)	LOX	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Other Phenotypes Aortic aneurysm, familial thoracic 10, OMIM:617168 Tags
Green Green List (high evidence)	LTBP4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IC, OMIM:613177 Tags
Green Green List (high evidence)	PLOD1	8 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400 Tags
Green Green List (high evidence)	PRDM5	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Brittle cornea syndrome 2, OMIM:614170 Tags
Green Green List (high evidence)	PYCR1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIIB, OMIM:614438 Cutis laxa, autosomal recessive, type IIB, OMIM:612940 Tags
Green Green List (high evidence)	RIN2	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075 Tags
Green Green List (high evidence)	ROBO3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313 Tags
Green Green List (high evidence)	SKI	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Shprintzen-Goldberg syndrome, OMIM:182212 Tags
Green Green List (high evidence)	SLC39A13	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350 Tags
Green Green List (high evidence)	SMAD2	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Loeys-Dietz syndrome, MONDO:0018954 Tags
Green Green List (high evidence)	SMAD3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Loeys-Dietz syndrome 3, OMIM:613795 Tags
Green Green List (high evidence)	TGFB2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Phenotypes Loeys-Dietz syndrome 4, OMIM:614816 Tags
Green Green List (high evidence)	TGFB3	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Other Phenotypes Loeys-Dietz syndrome 5, OMIM:615582 Tags
Green Green List (high evidence)	TGFBR1	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Loeys-Dietz syndrome 1, OMIM:609192 Tags
Green Green List (high evidence)	TGFBR2	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Phenotypes Loeys-Dietz syndrome 2, OMIM:610168 Tags
Green Green List (high evidence)	TNXB	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408 Tags
Green Green List (high evidence)	ZNF469	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Brittle cornea syndrome 1, OMIM:229200 Tags
Amber Amber List (moderate evidence)	ABL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Congenital heart defects and skeletal malformations syndrome, OMIM:617602 Tags missense
Amber Amber List (moderate evidence)	ACTA2	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 6, OMIM:611788 Tags
Amber Amber List (moderate evidence)	ADAMTSL2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Dermatosparaxic Ehlers Danlos syndrome Tags
Amber Amber List (moderate evidence)	DCC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 Tags structural-variant watchlist
Amber Amber List (moderate evidence)	EFEMP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Connective tissue disorder Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	IPO8	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Amber Amber List (moderate evidence)	LTBP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cutis laxa, autosomal recessive, type IIE, OMIM:619451 Joint hyperlaxity Tags
Amber Amber List (moderate evidence)	LTBP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MYLK	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS Phenotypes Aortic aneurysm, familial thoracic 7, OMIM:613780 Tags
Amber Amber List (moderate evidence)	NOTCH1	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Amber NHS GMS Phenotypes connective tissue disease, MONDO:0003900 Tags
Amber Amber List (moderate evidence)	PIEZO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes ?Marden-Walker syndrome, OMIM:248700 connective tissue disease, MONDO:0003900 Tags
Red Red List (low evidence)	ACVR1	2 reviews 2 red	Not set	Sources Emory Genetics Laboratory Expert list Phenotypes Connective Tissue Disorders Tags
Red Red List (low evidence)	COX7B	2 reviews 2 red	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887 Tags
Red Red List (low evidence)	FLCN	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Pneumothorax, primary spontaneous, 173600 Connective Tissue Disorders Tags
Red Red List (low evidence)	FLNA	4 reviews 2 green 2 red	Not set	Sources Emory Genetics Laboratory Expert list Phenotypes Cardiac valvular dysplasia, X-linked, OMIM:314400 Heterotopia, periventricular, 1, OMIM:300049 Tags
Red Red List (low evidence)	MYH11	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Phenotypes Aortic aneurysm, familial thoracic 4, 132900 Tags
Red Red List (low evidence)	PLOD3	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Lysyl hydroxylase 3 deficiency, 612394 Tags
Red Red List (low evidence)	SLC2A10	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Phenotypes Arterial tortuosity syndrome, 208050 Connective Tissue Disorders, Cutis laxa Tags
Red Red List (low evidence)	TPSAB1	1 review 1 red	Unknown	Sources Expert Review Literature Phenotypes ?Mast cell dysfunction (with joint hypermobility) Tags gene-checked
No list No list	ABCC6	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Pseudoxanthoma elasticum, AR 264800 Pseudoxanthoma elasticum, forme fruste, AD 177850 Tags curated_removed
No list No list	COL11A1	5 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Stickler syndrome, type II, 604841 Connective Tissue Disorders Marshall syndrome, 154780 Fibrochondrogenesis, 228520 Tags curated_removed
No list No list	COL11A2	5 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags curated_removed
No list No list	COL2A1	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Stickler syndrome, type I, 108300 Connective Tissue Disorders Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Tags curated_removed
No list No list	COL9A1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes 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. Tags curated_removed
No list No list	COL9A2	5 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes 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. Tags curated_removed
No list No list	COL9A3	5 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed NHS GMS Phenotypes Stickler syndrome VI Connective Tissue Disorders Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 Multiple epiphyseal dysplasia Tags curated_removed
No list No list	GGCX	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency, 610842 Tags curated_removed pharmacogenetics
No list No list	MED12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 Opitz-Kaveggia syndrome, 305450 Tags curated_removed
No list No list	PKD2	1 review	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Removed Phenotypes Polycystic kidney disease 2, 613095 Connective Tissue Disorders Tags curated_removed
No list No list	SERPINA1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Removed Tags curated_removed
No list No list	SMAD4	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT) ~20% with connective tissue features. Tags curated_removed
No list No list	TSC1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Removed Tags curated_removed
No list No list	TSC2	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Removed Phenotypes cutis laxa (Conditions which present with lung cystic lesions include alpha-1-antitrypsin deficiency, Birt-Hogg-Dube syndrome, tuberous sclerosis, complex-associated lymphangioleiomyomatosis (LAM), cutis laxa, and emphysema) Tags curated_removed

Major version comments

2023-03-22 15:45 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this

2019-09-04 10:51 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.63) was signed off under NHS Genomic Medicine Service governance on (04/September/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

Ehlers Danlos syndrome with a likely monogenic cause (Version 3.12)

19 reviewers

80 Entities

80 reviewed, 47 green

6 reviews

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Phenotypes

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5 reviews

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Phenotypes

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5 reviews

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Phenotypes

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6 reviews

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Phenotypes

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6 reviews

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Phenotypes

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6 reviews

Sources

Phenotypes

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7 reviews

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Phenotypes

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7 reviews

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Phenotypes

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5 reviews

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Phenotypes

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6 reviews

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Phenotypes

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6 reviews

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Phenotypes

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6 reviews

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Phenotypes

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9 reviews

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Phenotypes

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7 reviews

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Phenotypes

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6 reviews

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Phenotypes

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6 reviews

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Phenotypes

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7 reviews

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Phenotypes

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6 reviews

Sources

Phenotypes

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6 reviews

Sources

Phenotypes

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