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Hearing loss

Gene: SCARB2

Red List (low evidence)

SCARB2 (scavenger receptor class B member 2)
EnsemblGeneIds (GRCh38): ENSG00000138760
EnsemblGeneIds (GRCh37): ENSG00000138760
OMIM: 602257, Gene2Phenotype
SCARB2 is in 10 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#254900:Epilepsy, progressive myoclonic 4, with or without renal failure[Horizontal saccades; Dysphagia; Renal failureNephrotic syndromeProteinuriaFocal segmental glomerulosclerosisCollapsing glomerulopathyVacuolization in distal and collecting tubulesGranular material in cortical tubulesComplement component deposition; Action tremorIntention tremorPostural tremorDysarthriaAction myoclonusResting myoclonusGait ataxiaSeizures, generalizedNo cognitive declineExtraneuronal accumulation of autofluorescent pigmented material in various brain regionsCerebellar atrophy; Thrombocytopenia (reported in 1 patient); Proteinuria]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCARB2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert