Monogenic hearing loss
Gene: GUSBEnsemblGeneIds (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
- PMID:10051635
- 1017320
- 1027150
- 10366443
- 11226217
- 11228259
- 11568288
- 11959904
- 11983877
- 12232044
- 12403825
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- 7239519
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- 7573038
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- 7633414
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- 8565635
- 8644704
- 9099834
- 9120003
- 941902
- 941903
- 9490302
- 9521879
- 9525982
- 9921904
- 9987917
Details
- Sources
-
- Expert
- OMIM
- 611499
- Clinvar variants
- Variants in GUSB
- Penetrance
- Complete
- Panels with this gene
-
- Fetal hydrops
- Lysosomal storage disorder
- Hydrocephalus
- Likely inborn error of metabolism
- DDG2P
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Hypertrophic cardiomyopathy
- Mucopolysaccharideosis, Gaucher, Fabry
- Monogenic hearing loss
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)GUSB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert