Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R104.4 Osteopetrosis' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R104.4 Osteopetrosis'.

The content of this panel (version 1.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/943/?version=1.1) was signed off under NHS Genomic Medicine Service governance on (21/09/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.

2 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

20 Entities

20 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
AMER1
1 review
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
  • NHS GMS
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
Tags
Green Green List (high evidence)
ANKH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Chondrocalcinosis 2 118600
  • Craniometaphyseal dysplasia 123000
Tags
Green Green List (high evidence)
CA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Tags
Green Green List (high evidence)
CLCN7
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 4 611490
  • Osteopetrosis, autosomal dominant 2 166600
Tags
Green Green List (high evidence)
CTSK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pycnodysostosis 265800
Tags
Green Green List (high evidence)
FAM20C
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Raine syndrome 259775
Tags
Green Green List (high evidence)
FERMT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leukocyte adhesion deficiency, type III 612840
Tags
Green Green List (high evidence)
LEMD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopoikilosis with or without melorheostosis 166700
  • Buschke-Ollendorff syndrome 166700
Tags
Green Green List (high evidence)
LRP5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal dominant 1 607634
  • Osteosclerosis 144750
  • Hyperostosis, endosteal 144750
  • [Bone mineral density variability 1] 601884
  • van Buchem disease, type 2 607636
Tags
Green Green List (high evidence)
OSTM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 5 259720
Tags
Green Green List (high evidence)
PTH1R
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Chondrodysplasia, Blomstrand type 215045
  • Metaphyseal chondrodysplasia, Murk Jansen type 156400
Tags
Green Green List (high evidence)
RASGRP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Bleeding disorder, platelet-type, 18 615888
Tags
Green Green List (high evidence)
SNX10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 8 615085
Tags
Green Green List (high evidence)
SOST
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sclerosteosis 1 269500
  • Craniodiaphyseal dysplasia, autosomal dominant 122860
  • Van Buchem disease 239100
Tags
Green Green List (high evidence)
TCIRG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 1 259700
Tags
Green Green List (high evidence)
TGFB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Camurati-Engelmann disease 131300
Tags
Green Green List (high evidence)
TNFRSF11A
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteolysis, familial expansile 174810
  • {Paget disease of bone 2, early-onset} 602080
  • Osteopetrosis, autosomal recessive 7 612301
Tags
Green Green List (high evidence)
TNFSF11
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 2 259710
Tags
Green Green List (high evidence)
TYROBP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770
Tags
Amber Amber List (moderate evidence)
PLEKHM1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Osteopetrosis, autosomal recessive 6 611497
  • Osteopetrosis, autosomal dominant 3 618107
Tags
  • watchlist

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