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  3. ERCC5
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Monogenic hearing loss

Gene: ERCC5

Red List (low evidence)
ERCC5 (ERCC excision repair 5, endonuclease)
EnsemblGeneIds (GRCh38): ENSG00000134899
EnsemblGeneIds (GRCh37): ENSG00000134899
OMIM: 133530, Gene2Phenotype
ERCC5 is in 13 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278780:Xeroderma pigmentosum, group G/Cockayne syndrome[Poor growth (in some patients); Microcephaly (in some patients); Cataracts (in some patients)Microphthalmia (in some patients); Pes cavus (in some patients); PhotosensitivityAbnormal sensitivity to UVB wavelengths by radiation monochromator skin testing; Developmental deterioration (in some patients)Tremor (in some patients)Ataxia (in some patients)Spasticity (in some patients); Defective DNA repair after ultraviolet radiation damage]; #616570:Cerebrooculofacioskeletal syndrome 3[Intrauterine growth retardation; Microcephaly; Micrognathia; Low-set ears; Microphthalmia (in some patients); Cleft palate (in some patients); Arthrogryposis; Clenched fists; Rocker bottom feetTalipes equinovarus; Sun sensitivity; Edema; Lack of psychomotor developmentImmature cerebral sulcation (in some patients)Posterior fossa abnormalities (in some patients); Decreased fetal movements; Increased cellular UV sensitivity]

Publications

Created: 7 Feb 2016, 8:51 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert