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Prepair 1000+

Gene: KIAA0586

Green List (high evidence)

KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 16 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Reviewed as Green for Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546)

- I don't know for Joubert syndrome 23 (MIM#616490)
- OMIM: relatively mild phenotype; not reviewed by Mackenzie's Mission
- PMIDs 26386044, 28125082, 36580738, 39063141: individuals with early-onset neurodevelopmental delay and/or retinal coloboma and/or kidney disease and/or epilepsy
- Unsure if it is mild enough to exclude
Created: 15 Jan 2025, 10:02 p.m. | Last Modified: 15 Jan 2025, 10:02 p.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546); Joubert syndrome 23 (MIM#616490)

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiaa0586 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive to Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546); Joubert syndrome 23 (MIM#616490)

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIAA0586 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA0586 was added gene: KIAA0586 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive