Monogenic hearing loss
Gene: MKKSEnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#236700:McKusick-Kaufman syndrome[Congenital heart disease; Hypoplastic lungs; Hirschsprung disease (12%)Imperforate anus (8%)Rectovaginal fistula; Cryptorchidism; HydrometrocolposTransverse vaginal membraneVaginal atresiaVaginal stenosisRectovaginal fistulaVesicovaginal fistula; Hydronephrosis (secondary to ureteral compression from hydrometrocolpos)Polycystic kidney; Hydroureter; Vesicovaginal fistula; Congenital dislocation of the hip; Mesoaxial polydactylyPostaxial polydactylySyndactyly; Leg edema]; #605231:Bardet-Biedl syndrome 6[Obesity; Retinitis pigmentosaRetinal dystrophy; HypogenitalismHypospadias; Structural renal abnormalitiesLobulated kidneysCystic kidneys; Polydactyly; Syndactyly; Learning disabilitiesMental retardation; Diabetes mellitus; Caused by mutation in the MKKS gene (MKKS,)]
Publications
Details
- Sources
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- Expert
- OMIM
- 604896
- Clinvar variants
- Variants in MKKS
- Penetrance
- Complete
- Panels with this gene
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- 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
Added New Source
Ellen McDonagh (Genomics England Curator)MKKS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert