Monogenic hearing loss
Gene: ERCC3EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 14 panels
2 reviews
Maria Bitner-Glindzicz (UCL)
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
Details
- Sources
-
- Expert
- OMIM
- 133510
- Clinvar variants
- Variants in ERCC3
- Penetrance
- Complete
- Panels with this gene
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- White matter disorders and cerebral calcification - narrow panel
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Adult solid tumours cancer susceptibility
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic hearing loss
- DDG2P
- Structural eye disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert