PanelApp
  1. Panels
  2. Osteopetrosis
Description
This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.

The panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.

This panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).
Panel Activity

6 reviewers

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

36 Entities

36 reviewed, 31 green

List Entity Reviews Mode of inheritance Details
36 Entitiess
Green Green List (high evidence)
ADAMTSL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)
Tags
Green Green List (high evidence)
AMER1
2 reviews
2 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopathia striata with cranial sclerosis, MIM# 300373
  • MONDO:0010310
Tags
Green Green List (high evidence)
ANKH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • craniometaphyseal dysplasia MONDO:0015465
Tags
Green Green List (high evidence)
AXIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558
Tags
Green 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 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 Green List (high evidence)
CSF1R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476
  • BANDDOS
Tags
Green Green List (high evidence)
CTSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • pycnodysostosis MONDO:0009940
Tags
Green 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 Green List (high evidence)
DVL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal dominant 2, MIM# 616331
Tags
Green 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 Green List (high evidence)
FERMT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • leukocyte adhesion deficiency 3 MONDO:0013016
Tags
Green Green List (high evidence)
IKBKG
1 review
1 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
  • Victorian Clinical Genetics Services
Phenotypes
  • IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162
  • incontinentia pigmenti MONDO:0010631
Tags
  • SV/CNV
Green 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 Green List (high evidence)
LRP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sclerosteosis 2, MIM# 614305
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant osteopetrosis 1 MONDO:0011877
Tags
Green Green List (high evidence)
LRRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)
Tags
Green Green List (high evidence)
MITF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • COMMAD syndrome, MIM# 617306
Tags
Green 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 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 Green List (high evidence)
PTDSS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lenz-Majewski hyperostotic dwarfism MIM#151050
Tags
Green Green List (high evidence)
PTH1R
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chondrodysplasia, Blomstrand type, MIM# 215045
Tags
Green Green List (high evidence)
SNX10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 8 MIM#615085
Tags
Green Green List (high evidence)
SOST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • sclerosteosis 1 MONDO:0010016
Tags
Green Green List (high evidence)
TBCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kenny-Caffey syndrome, type 1, MIM# 244460
Tags
Green Green List (high evidence)
TBXAS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ghosal hematodiaphyseal syndrome, MIM# 231095
Tags
Green Green List (high evidence)
TCIRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 1 MIM#259700
Tags
Green Green List (high evidence)
TGFB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Camurati-Engelmann disease MONDO:0007542
Tags
Green 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 Green List (high evidence)
TNFRSF11A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 7 MIM#612301
Tags
Green 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
Amber 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 Red List (low evidence)
BORCS5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)
Tags
Red 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
Red Red List (low evidence)
SGMS2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Tags
Red Red List (low evidence)
TYROBP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749
Tags

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