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  2. Osteopetrosis

Osteopetrosis (Version 0.34)

Level 2: Skeletal disorders

Relevant disorders: Increased bone mineral density, HP:0011001
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital
Description
This panel was developed and is maintained by VCGS.
Panel Activity

5 reviewers

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lucy Spencer (Victorian Clinical Genetics Services)

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

25 Entities

25 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green List (high evidence)
AMER1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ANKH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Tags
Green List (high evidence)
CLCN7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 4, MIM#611490
Tags
  • treatable
Green List (high evidence)
CTSK
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypophosphataemic rickets, MIM#600980
Tags
Green List (high evidence)
FAM20C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Raine syndrome, MIM# 259775
  • MONDO:0009821
Tags
Green List (high evidence)
FERMT3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
IKBKG
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LEMD3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Buschke-Ollendorff syndrome MIM#166700
  • Osteopoikilosis with or without melorheostosis MIM#166700
Tags
Green List (high evidence)
LRP5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
OSTM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 5 MIM#259720
Tags
Green List (high evidence)
PLEKHM1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal dominant 3, MIM# 618107
  • Osteopetrosis, autosomal recessive 6 , MIM# 611497
Tags
Green List (high evidence)
PTH1R
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SGMS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Tags
Green List (high evidence)
SNX10
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SOST
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TCIRG1
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TGFB1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TMEM53
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary Bone Dysplasia MONDO: 0018230
Tags
Green List (high evidence)
TNFRSF11A
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TNFSF11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 2 MIM#259710
Tags
Green List (high evidence)
TYROBP
1 review
1 red 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber List (moderate evidence)
SLC4A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 9, MIM# 620366
Tags
Red List (low evidence)
RASGRP2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 18 - MIM#615888
  • Osteopetrosis (disease) MONDO:0017198
Tags

Downloads

Download lists

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

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