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Monogenic hearing loss

Gene: RPS6KA3

Red List (low evidence)
RPS6KA3 (ribosomal protein S6 kinase A3)
EnsemblGeneIds (GRCh38): ENSG00000177189
EnsemblGeneIds (GRCh37): ENSG00000177189
OMIM: 300075, Gene2Phenotype
RPS6KA3 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Inheritance:Isolated cases;X-linked dominant
Created: 9 Feb 2016, 10:08 a.m.
Inheritance:X-linked dominant;Isolated cases
Created: 7 Feb 2016, 3:45 p.m.
Inheritance:X-linked dominant,Isolated cases
Created: 7 Feb 2016, 9:30 a.m.
Inheritance:X-linked dominant
Created: 7 Feb 2016, 9 a.m.

Mode of inheritance
Other

Phenotypes
#300844:Mental retardation, X-linked 19[Low birth weight (in some patients); Prominent forehead; Coarsening facial features with age; Broad nasal tip; Thick columellaFull lower lip; Dental crowding; KyphoscoliosisScoliosis; Long hands; Long feet; Reduced muscle toneReduced muscle bulk; HypotoniaMotor delaySpeech delayMental retardation, mild to moderateLearning disability, mild (in one female); Caused by mutation in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3,)]; #303600:Coffin-Lowry syndrome[Normal birth lengthShort stature; Normal birth weightWeight less than 3rd percentile; Microcephaly; Coarse faciesProminent browProminent chin; Prominent earsSensorineural hearing loss; Downslanting palpebral fissuresHypertelorismHeavy eyebrowsArched eyebrows; Broad noseThick alae nasiAnteverted naresThick nasal septum; Large, open mouthThick, everted lower lipNarrow palateHigh palate; HypodontiaMalocclusionWide-spaced teethLarge medial incisors; Mitral insufficiency; Pectus excavatumPectus carinatum; Short bifid sternum; Rectal prolapse; Inguinal hernia; Uterine prolapse; Delayed bone age; Thick calvariumHypoplastic sinusesHypoplastic mastoidsDelayed closure of anterior fontanel; ScoliosisKyphosisLumbar gibbus deformity; Coxa valgaNarrow iliac wings; Forearm fullnessExtensible joints; Large, soft handsTapering fingersTransverse palmar creasesHyperextensible fingersShort metacarpals' Drumstick' terminal phalanges; Flat feet; Loose skinCutis marmorataDependent acrocyanosisTransverse palmar creases; Small fingernailsHyperconvex fingernails; Straight, coarse hair; Mental retardationHypotoniaSeizuresVentricular dilatation]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS6KA3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory