Genes in panel
STRs in panel
Prev Next

Rare multisystem ciliopathy disorders

Gene: KIAA0586

Green List (high evidence)

KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 23.
Created: 27 Aug 2016, 10:28 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 11:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; Short-rib dysplasia 14 with polydactyly

Publications

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

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Nov 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA0586 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

27 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KIAA0586 were set to Joubert syndrome; Short-rib dysplasia 14 with polydactyly

27 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KIAA0586 were set to 26096313

27 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA0586 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIAA0586 was created by ellenmcdonagh