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Hearing loss

Gene: SPINK5

Red List (low evidence)

SPINK5 (serine peptidase inhibitor, Kazal type 5)
EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#147050:Atopy[Atopic hypersensitivity; Asthma; Hay fever; Eczema; IgE level control]; #256500:Netherton syndrome[Failure to thrive; Sparse eyebrows; Asthma; Enteropathy with villous atrophy; Generalized erythrodermaIchthyosis linearis circumflexaCongenital lamellar ichthyosisUrticaria; Sparse, brittle scalp hairTrichorrhexis invaginata (" bamboo hair" )Sparse eyebrows; Angioedema; Developmental delay; Hypernatremic dehydration; Hypereosinophilia; Elevated immunoglobulin E (IgE)Recurrent infectionsHay feverAsthmaAngioedemaFood allergy; Caused by mutation in the serine protease inhibitor, Kazal type, 5 gene (SPINK5,)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SPINK5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert