PanelApp
  1. Panels
  2. Oligodontia
Description
This panel was developed and is maintained by VCGS.
Panel Activity

10 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Krithika Murali (Pathology Queensland)

  • Abhijit Kulkarni (Healius Pathology)

  • Sangavi Sivagnanasundram (Melbourne Health)

14 Entities

12 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green Green List (high evidence)
AXIN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Oligodontia-colorectal cancer syndrome, MIM# 608615
Tags
Green Green List (high evidence)
EDA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
  • Tooth agenesis, selective, X-linked 1 MIM#313500
Tags
Green Green List (high evidence)
EDAR
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884
  • autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Tags
Green Green List (high evidence)
EDARADD
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884
  • autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Tags
Green Green List (high evidence)
IKBKG
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 1, MIM# 300291
  • Immunodeficiency 33 , MIM#300636
  • Incontinentia pigmenti, MIM# 308300
Tags
  • SV/CNV
Green Green List (high evidence)
KRT17
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LRP6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MSX1
3 reviews
3 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tooth agenesis, selective, 1, MONDO:0007129
Tags
Green Green List (high evidence)
PAX9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tooth agenesis, selective, 3 - MIM#604625
Tags
Green Green List (high evidence)
SMOC2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM# 125400
Tags
Green Green List (high evidence)
WNT10A
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Odontoonychodermal dysplasia 257980 AR
  • Schopf-Schulz-Passarge syndrome 224750 AR
  • Tooth agenesis, selective, 4 150400 AR, AD
Tags
Green Green List (high evidence)
WNT10B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tooth agenesis, selective, 8 MIM#617073
Tags
Amber Amber List (moderate evidence)
GREM2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tooth agenesis, selective, 9 MONDO:0014999
Tags
Red Red List (low evidence)
LEF1
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224
Tags

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