Monogenic hearing loss
Gene: SLC33A1EnsemblGeneIds (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
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- Mitochondrial disorders
- Hereditary spastic paraplegia
- DDG2P
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)SLC33A1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen