Ectodermal dysplasia
Gene: IFT43
IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted due to expert review.Created: 22 Jul 2016, 2:25 p.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.Created: 19 Nov 2015, 3:17 p.m.
John McGrath (King's College London)
Cranioectdermal dysplasia sounds like an ED but isn't reallyCreated: 19 Nov 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cranioectodermal dysplasia 3, 614099
- Cranioectodermal Dysplasia
- OMIM
- 614068
- Clinvar variants
- Variants in IFT43
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Skeletal ciliopathies
- Limb disorders
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Ectodermal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: IFT43 was added gene: IFT43 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Cranioectodermal Dysplasia