Skeletal dysplasia
Gene: KIAA0586EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 16 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 36538006 - fetus with post-axial polydactyly, short limbs and persistent left superior vena cava (PLSVC) with a dilated coronary sinus. Chet variants c.3940+1G>A
and c.3303G>A (synonymous) were identified. Functional studies support an impact for both variants.
PMID: 26096313 - 9 unrelated families with Joubert syndrome. MRI shows the molar tooth sign in 3/3 scanned patients. Patients tended to have biallelic PTCs, though missense also reported. p.Arg143Lysfs*4 appears to be a recurring mutation, seen in patients either as a homozygote or in chet with another unique mutation in 7/9 families. Interestingly these 7 families were of different ethnicity
PMID: 26166481 - Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.
Sources: LiteratureCreated: 16 Feb 2024, 5:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23 MIM#616490; Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Joubert syndrome 23 MIM#616490
- Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
- OMIM
- 610178
- Clinvar variants
- Variants in KIAA0586
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal Dysplasia_Fetal
- Skeletal dysplasia
- Fetal anomalies
- Mendeliome
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: kiaa0586 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: kiaa0586 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: kiaa0586 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: KIAA0586 was added gene: KIAA0586 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to PMID: 36538006; 26096313; 26166481 Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23 MIM#616490; Short-rib thoracic dysplasia 14 with polydactyly MIM#616546 Review for gene: KIAA0586 was set to GREEN