This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: IFT122
IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Cilliopathies with major skeletal involvement gp of SDs. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 1 218330
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cranioectodermal dysplasia 1 218330
- OMIM
- 606045
- Clinvar variants
- Variants in IFT122
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Thoracic dystrophies
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
- Renal ciliopathies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Skeletal ciliopathies
- Intellectual disability
- Ductal plate malformation
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- Fetal anomalies
- DDG2P
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IFT122 was added gene: IFT122 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 218330