PanelApp (test)
  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).

Updated following literature review December 2025.
Panel Activity

6 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Krithika Murali (Pathology Queensland)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

37 Entities

37 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
37 Entitiess
Green Green List (high evidence)
ADAMTSL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Tags
Green Green List (high evidence)
CLCN7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • pycnodysostosis MONDO:0009940
Tags
Green Green List (high evidence)
DMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • autosomal dominant osteopetrosis 1 MONDO:0011877
Tags
Green Green List (high evidence)
LRP6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
Disease associations
  • Osteopetrosis, autosomal dominant 4, MIM# 621449
Tags
Green Green List (high evidence)
LRRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • sclerosteosis 1 MONDO:0010016
Tags
Green Green List (high evidence)
TBCE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Osteopetrosis, autosomal recessive 2 MIM#259710
Tags
Amber Amber List (moderate evidence)
SLC4A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749
Tags

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