Skeletal Dysplasia_Fetal
Gene: SHOXEnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 8 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome.
PMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency.
Sources: Expert list, LiteratureCreated: 27 Sep 2022, 4:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- Leri-Weill dyschondrosteosis, MIM# 127300
- Langer mesomelic dysplasia, MIM#249700
- OMIM
- 312865
- Clinvar variants
- Variants in SHOX
- Penetrance
- None
- Publications
- 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 publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: SHOX was added gene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOX were set to 29330548 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