Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: ERCC3

Red List (low evidence)

ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 13 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#610651:Xeroderma pigmentosum, group B[Short stature; Cachectic appearance; Microcephaly; Wizened face; Sensorineural deafness; Pigmentary retinopathyMicrophthalmiaCataractsOptic atrophy; PhotosensitivityFrecklingAbnormal pigmentationAtrophic skin; Mental retardationAtaxiaEnlarged cerebral ventriclesCerebellar atrophyAbnormal myelinationBasal ganglia calcifications; HyperreflexiaDecreased nerve conduction velocity; Hypogonadism; MelanomaBasal cell carcinomaSquamous cell carcinomaIncreased risk of malignancy; Decreased DNA excision repairIncreased cellular sensitivity to UV light]; #616390:Trichothiodystrophy 2, photosensitive

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert