Rare multisystem ciliopathy disorders
Gene: MKKSEnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).Created: 4 Aug 2016, 3:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Phenotypes
-
- Bardet‐Biedl syndrome 6
- 236700
- OMIM
- 604896
- Clinvar variants
- Variants in MKKS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Intellectual disability
- Fetal anomalies
- Ductal plate malformation
- Bardet Biedl syndrome
- Monogenic hearing loss
- Skeletal dysplasia
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)MKKS was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MKKS were set to Bardet‐Biedl syndrome 6; 236700
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MKKS were set to Bardet‐Biedl syndrome 6; 236700
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MKKS were set to 10973238; 10802661; 10973251
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MKKS was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)MKKS was created by ellenmcdonagh