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Hearing loss

Gene: ERCC2

Red List (low evidence)

ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 15 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278730:Xeroderma pigmentosum, group D[Skin photosensitivity; Early onset skin cancer (basal cell, squamous cell and malignant melanoma); Early freckle-like lesions in exposed areas; Poikiloderma; Increased/decreased skin pigment; Skin atrophy; Telangiectasia; Actinic keratoses; Angiomas; Keratoacanthomas; Photophobia; Conjunctivitis; Keratitis; Ectropion; Entropion; Mental deterioration; Low intelligence; Microcephaly; Sensorineural deafness; Hyporeflexia; Spasticity; Ataxia; Choreoathetosis; Later onset of neurologic features; Xerodermic idiocy of de sanctis and cacchione [de sanctis-cacchione syndrome] occurs most often in Group D; Linkage with trichothiodystrophy including abnormal hair shaft, ichthyosis, hypogenitalism, short stature, and peculiar facies; Defective DNA repair after ultraviolet radiation damage]; #601675:Trichothiodystrophy 1, photosensitive[Brittle hair; Brittle nails; Ichthyotic skin; Nonbullous ichthyosiform erythroderma; Collodion baby; Photosensitivity; Erythroderma; Lack of subcutaneous fatty tissue; Physical retardation; Low birth weight; Short stature; Mental retardation; Hypogammaglobulinemia; Intestinal obstruction; Absent breast tissue; Hypogonadism; Aged appearance; Cataract; Microcephaly; Asthma; Joint contractures; Recurrent infections; Reduced cysteine-rich hair and nail matrix proteins; Nucleotide excision-repair (NER) defect]; #610756:Cerebrooculofacioskeletal syndrome 2[<omim version=1.0><clinicalSynopsisList>]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert