Thoracic dystrophies
Gene: KIAA0586EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 15 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
JATD/SRPS/HLS/JBTS
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases. Expert review green.Created: 25 May 2017, 12:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546
Hannah Mitchison (UCL and GOSH)
Phenotypes
JATD/SRPS/HLS/JBTS
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546
- OMIM
- 610178
- Clinvar variants
- Variants in KIAA0586
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Clefting
- Hydrocephalus
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Fetal anomalies
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for KIAA0586 were set to SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for KIAA0586 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Hannah Mitchison (UCL and GOSH)KIAA0586 was added to Thoracic dystrophiespanel. Sources: Expert Review
Created
Hannah Mitchison (UCL and GOSH)KIAA0586 was created by hmitchis