Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: SLC33A1

Red List (low evidence)

SLC33A1 (solute carrier family 33 member 1)
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#612539:Spastic paraplegia 42, autosomal dominant[Pes cavus; Increased muscle tone, lower limbsMuscle atrophy, lower limbsMuscle weakness, lower limbs; Spastic paraplegiaSpastic gaitLower limb hyperreflexiaExtensor plantar responses]; #614482:Congenital cataracts, hearing loss, and neurodegeneration[Hearing loss; Cataracts, congenitalNystagmus; Hypotonia; Psychomotor retardation, severeInability to sit or walk independentlySeizures (in 2 patients)Lack of speechCerebral atrophyCerebellar atrophyHypomyelinationWide subarachnoid spaces; Decreased serum copperDecreased serum ceruloplasmin]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 42, autosomal dominant, 612539
  • Spasticparaplegia42,autosomaldominant,612539Congenitalcataracts,hearingloss,andneurodegeneration,614482
OMIM
603690
Clinvar variants
Variants in SLC33A1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC33A1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen