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Hearing loss

Gene: ARSB

Red List (low evidence)

ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 14 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#253200:Mucopolysaccharidosis type VI (Maroteaux-Lamy)[Adult height 110-140 cmShort-trunked dwarfism; Growth arrest at 2-4 years of age; Macrocephaly; Mildly coarse facies; Hearing loss; GlaucomaCorneal clouding; Low nasal bridge; Thickened lipsMacroglossia; Valvular heart disease (aortic and mitral valves)Infantile cardiomyopathy; Frequent upper respiratory infections; Prominent sternumBroad ribs; Inguinal herniaUmbilical hernia; Hepatomegaly; Splenomegaly; Dysostosis multiplex; Large omega-shaped sellaLarge dolichocephalic skull; Prominent lumbar lordosisOdontoid hypoplasiaOvoid vertebral bodiesAnterior wedging of L1 and L2; Hip dysplasiaAcetabular hypoplasiaSmall, flared iliac wingsAseptic necrosis of femoral head; Joint stiffnessGenu valgumEpiphyseal dysplasiaBroad, irregular metaphyses; Claw hand deformities; Mild hirsutism; Normal intelligenceCervical myelopathyHydrocephalus; Carpal tunnel syndrome; Arylsulfatase B deficiency in fibroblasts and white blood cellsDermatan sulfate excretion in urine]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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