Radial Ray Abnormalities
Gene: SHOXEnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert listCreated: 22 Jul 2020, 11:54 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Details
- Mode of Inheritance
- 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
- Expert list
- Phenotypes
-
- Leri-Weill dyschondrosteosis, MIM# 127300
- Langer mesomelic dysplasia, MIM#249700
- OMIM
- 312865
- Clinvar variants
- Variants in SHOX
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shox has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shox has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SHOX was added gene: SHOX was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SHOX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700 Review for gene: SHOX was set to GREEN