Ectodermal dysplasia without a known gene mutation
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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cranioectodermal dysplasia 3, 614099
- Cranioectodermal Dysplasia
- OMIM
- 614068
- Clinvar variants
- Variants in IFT43
- Penetrance
- Complete
- 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
10 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
22 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Oct 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
8 Oct 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)IFT43 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
8 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)IFT43 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen