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Hearing loss

Gene: GUSB

Red List (low evidence)

GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 14 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#253220:Mucopolysaccharidosis VII[Short stature; Postnatal growth deficiency; Macrocephaly; Coarse facies; Hearing loss; Variable degree of corneal opacities; Short neck; Valvular heart disease; Flaring of lower ribsPectus carinatum; Umbilical herniaInguinal hernia; Hepatomegaly; Splenomegaly; Dyostosis multiplex; J-shaped sella turcica; PlatyspondylyThoracolumbar gibbusOdontoid hypoplasiaAnterior beaking of lower thoracic and lumbar vertebrae; Acetabular dysplasiaNarrow sciatic notches; Joint contractures; Pointed proximal metacarpals; Metatarsus adductus; Hirsutism; Mental retardationHydrocephalusNeurodegeneration; Hydrops fetalis; Beta-glucuronidase deficiency in fibroblasts and leukocytesDermatan and heparan sulfate excretion in urineCoarse metachromatic granules in white blood cellsChondroitin 4-, 6-sulfate excretion in urine]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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