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Hearing loss

Gene: ABHD5

Red List (low evidence)

ABHD5 (abhydrolase domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

syndromic
Created: 6 Feb 2016, 3:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#275630:Chanarin-Dorfman syndrome[Hearing loss, sensorineuralSmall ears; Subcapsular cataractsNystagmusStrabismusEctropion; Eclabium; Liver steatosisHepatomegaly; Nonbullous congenital ichthyosiform erythrodermaCollodion baby; Lipid droplets in basal keratinocytes; Diffuse alopecia; Muscle weaknessMyopathy; AtaxiaMental retardation; Lipid droplets in granulocytes]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABHD5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory