Severe early-onset obesity
Gene: MKS1EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
3 reviews
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
Ayesha Ahmed (GEL)
Comment on list classification: Expert opinion + published evidence (BBS13)Created: 19 Aug 2016, 11:59 a.m.
stephen o'rahilly (university of cambridge)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Obesity
- Bardet-Biedl syndrome 13, OMIM:615990
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- Complete
- Panels with this gene
-
- Severe early-onset obesity
- Retinal disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Clefting
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, 615990; Bardet-Biedl syndrome 13 to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to MKS1. Added phenotypes Bardet-Biedl syndrome 13, 615990 for gene: MKS1
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 Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MKS1 were set to Obesity;Bardet-Biedl syndrome 13
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ayesha Ahmed (GEL)Mode of inheritance for MKS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)MKS1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory