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Hearing loss

Gene: ERCC4

Red List (low evidence)

ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000175595
EnsemblGeneIds (GRCh37): ENSG00000175595
OMIM: 133520, Gene2Phenotype
ERCC4 is in 21 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278760:Xeroderma pigmentosum, type F/Cockayne syndrome[Short stature (in some patients); Low weight (in some patients); Microcephaly (in some patients); Hearing impairment (in some patients); Deep-set eyes (in some patients)Astigmatism (in some patients)Nystagmus (in some patients); Joint contractures (in some patients); Scoliosis (in some patients); Skin photosensitivityNumerous pigmented frecklesSeborrheic keratosis-like papulesRare skin cancersPlantar wartsHyperpigmentation; Learning disabilities (in some patients)Mental retardation (in some patients)Ataxia (in some patients)Tremor (in some patients)Dementia (in some patients)Brain atrophy (in some patients); Skin cancer susceptibility; Patient cells show defective transcription-coupled and global genome nucleotide excision repair (NER)]; #610965:?XFE progeroid syndrome[<omim version=1.0><clinicalSynopsisList>]; #615272:Fanconi anemia, complementation group Q[Short stature; Growth retardation; Microcephaly; Low-set ears; Biliary atresia; Esophageal atresia; Absent thumbs; Bone marrow failure; Patient cells show increased chromosome breakage]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert