PanelApp (stage)
  1. Panels
  2. Ehlers Danlos syndromes
Description
This panel contains genes that are associated with a clinical diagnosis of Ehlers-Danlos syndrome (EDS). The panel is derived from The 2017 international classification of the Ehlers–Danlos syndromes (PMID: 28306229).
The clinical EDS subtypes included: Classical EDS, Classical-like EDS, Cardiac-valvular EDS, Vascular EDS, Arthrochalasia EDS, Dermatosparaxis EDS, Kyphoscoliotic EDS, Brittle Cornea syndrome, Spondylodysplastic EDS, Musculocontractural EDS, Myopathic EDS, Periodontal EDS
The Aortopathy_Connective Tissue Disorders and Cutis Laxa panels capture the main differential diagnoses for these syndromes, including connective tissue phenotypes associated with vascular disease.
Panel Activity

4 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

20 Entities

20 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
ADAMTS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Dermatosparaxis EDS
  • Ehlers Danlos syndrome, type VIIC, 225410
Tags
Green Green List (high evidence)
AEBP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2 MIM#618000
  • Classical-like EDS
Tags
Green Green List (high evidence)
B3GALT6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Ehlers Danlos syndrome, progeroid type, 2, 615349
  • Spondylodysplastic EDS
Tags
Green Green List (high evidence)
B4GALT7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies, 130070
  • Spondylodysplastic EDS
Tags
Green Green List (high evidence)
C1R
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Periodontal EDS
  • Ehlers-Danlos syndrome periodontal type 1, 130080
Tags
Green Green List (high evidence)
C1S
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174
Tags
Green Green List (high evidence)
CHST14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Ehlers Danlos syndrome, musculocontractural type 1, 601776
  • Musculocontractural EDS
Tags
Green Green List (high evidence)
COL12A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Myopathic EDS
Tags
Green Green List (high evidence)
COL1A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Arthrochalasia EDS
  • Ehlers-Danlos syndrome, classic type, 130000
  • Ehlers-Danlos syndrome, type VIIA, 130060
Tags
Green Green List (high evidence)
COL1A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Ehlers Danlos syndrome, cardiac valvular form (AR), 225320
  • Arthrochalasia EDS
  • Cardiac-valvular EDS
  • Ehlers Danlos syndrome, type VIIB (AD), 130060
Tags
Green Green List (high evidence)
COL3A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Vascular EDS
  • Ehlers Danlos syndrome, type IV, 130050
Tags
Green Green List (high evidence)
COL5A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Classical EDS
Tags
Green Green List (high evidence)
COL5A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Classical EDS
Tags
Green Green List (high evidence)
DSE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Musculocontractural EDS
  • ?Ehlers Danlos syndrome, musculocontractural type 2, 615539
Tags
Green Green List (high evidence)
FKBP14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557
  • Kyphoscoliotic EDS
Tags
Green Green List (high evidence)
PLOD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Ehlers Danlos syndrome, type VI, 225400
  • Kyphoscoliotic EDS
Tags
Green Green List (high evidence)
PRDM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • International EDS Consortium
Phenotypes
  • Brittle cornea syndrome 2, 614170
Tags
Green Green List (high evidence)
SLC39A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
  • Spondylodysplastic EDS
Tags
Green Green List (high evidence)
TNXB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Classical-like EDS
  • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
Tags
Green Green List (high evidence)
ZNF469
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
Phenotypes
  • Brittle cornea syndrome 1, 229200
Tags

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