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Hearing loss

Gene: MKKS

Red List (low evidence)

MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 23 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MKKS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert