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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number.
Panel Activity

3 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

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 OMIM: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 OMIM:118600
  • Craniometaphyseal dysplasia OMIM: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 OMIM: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, OMIM:611490
  • Osteopetrosis, autosomal dominant 2, OMIM:166600
Tags
Green Green List (high evidence)
CTSK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pycnodysostosis OMIM:265800
Tags
Green Green List (high evidence)
FAM20C
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Raine syndrome OMIM: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 OMIM: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 OMIM:166700
  • Buschke-Ollendorff syndrome OMIM: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 OMIM:607634
  • Osteosclerosis OMIM:144750
  • Hyperostosis, endosteal OMIM:144750
  • [Bone mineral density variability 1] OMIM:601884
  • van Buchem disease, type 2 OMIM: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 OMIM: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 OMIM:215045
  • Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400
Tags
Green Green List (high evidence)
RASGRP2
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • osteopetrosis (disease) MONDO:0017198
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
SNX10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal recessive 8 OMIM: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 OMIM:269500
  • Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860
  • Van Buchem disease OMIM: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 OMIM: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, OMIM:131300
Tags
Green Green List (high evidence)
TNFRSF11A
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Paget disease of bone 2, early-onset} OMIM:602080
  • Osteopetrosis, autosomal recessive 7 OMIM: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 OMIM: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 OMIM: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 OMIM:611497
  • Osteopetrosis, autosomal dominant 3 OMIM:618107
Tags
  • watchlist

Major version comments

Downloads

Download lists

Download Version