Severe early-onset obesity
Gene: MKKSEnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels
2 reviews
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green as this is a green gene on the Bardet-Biedl panel version 1.53, and all other Bardet-Biedl green genes are green on this panel.Created: 19 Oct 2016, 6:58 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Obesity
- Bardet-Biedl syndrome 6, OMIM:605231
- OMIM
- 604896
- Clinvar variants
- Variants in MKKS
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MKKS were changed from Obesity; Bardet-Biedl syndrome 6; Bardet-Biedl syndrome 6, 605231 to Obesity; Bardet-Biedl syndrome 6, OMIM:605231
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to MKKS. Added phenotypes Bardet-Biedl syndrome 6, 605231 for gene: MKKS
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MKKS was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MKKS were set to Obesity; Bardet-Biedl syndrome 6
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MKKS were set to Congenital Obesity;Bardet-Biedl syndrome 6
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)MKKS was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory