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Multiple epiphyseal dysplasia and pseudoachondroplasia (Version 0.11)

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders

Relevant disorders: Multiple epiphyseal dysplasia, HP:0002654
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
Multiple epiphyseal dysplasia and pseudoachondroplasia
Panel Activity

5 reviewers

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

8 Entities

3 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green List (high evidence)
COL9A2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 2 600204
  • Stickler syndrome, type V, 614284
  • Stickler syndrome, type V 614284
  • {Intervertebral disc disease, susceptibility to}, 603932
Tags
Green List (high evidence)
COL9A3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple Epiphyseal Dysplasia, Dominant
  • Mutiple Epiphyseal Dysplasia
  • Stickler syndrome type VI
  • multiple epiphyseal dysplasia 3, with or without myopathy - 600969
  • MED
  • multiple epiphyseal dysplasia
  • Epiphyseal dysplasia, multiple, with myopathy
Tags
Green List (high evidence)
COMP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudoachondroplasia 177170
  • Epiphyseal dysplasia, multiple, 1 132400
Tags
Green List (high evidence)
ERI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663
Tags
Green List (high evidence)
MATN3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 5, 607078
  • Multiple Epiphyseal Dysplasia, Dominant
  • MED
  • multiple epiphyseal dysplasia
  • Disproportionate Short Stature
  • {Osteoarthritis susceptibility 2}, 140600
  • Spondyloepimetaphyseal dysplasia, 608728
Tags
Green List (high evidence)
SLC26A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple Epiphyseal Dysplasia, Recessive
  • multiple epiphyseal dysplasia
  • Epiphyseal dysplasia, multiple, 4
  • ACG1B,DD,rMED
Tags
Amber List (moderate evidence)
CANT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • multiple epiphyseal dysplasia type 7, 617719.
  • Desbuquois dysplasia 1 251450
Tags
Red List (low evidence)
COL9A1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 6 614135
Tags

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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