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Hearing loss

Gene: HAL

Red List (low evidence)

HAL (histidine ammonia-lyase)
EnsemblGeneIds (GRCh38): ENSG00000084110
EnsemblGeneIds (GRCh37): ENSG00000084110
OMIM: 609457, Gene2Phenotype
HAL is in 3 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#235800:[Histidinemia][Decreased histidase activityDecreased urocanic acid in stratum corneum; Mental retardation (rare less than 1% of cases)Speech disorders (rare); Behavioral disorders (rare); Increased histidine in blood, urine, and CSFDecreased or absent histidase activityDecreased urocanic acid in blood, urine, and skin cells]

Publications

Details

Sources
  • Expert
OMIM
609457
Clinvar variants
Variants in HAL
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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