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Hearing loss

Gene: ERCC1

Red List (low evidence)

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 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
#610758:Cerebrooculofacioskeletal syndrome 4[Intrauterine growth retardationPoor growth; Microcephaly; MicrognathiaShort philtrum; Low-set earsPosteriorly rotated ears; MicrophthalmiaBlepharophimosisDeep-set eyesNystagmus; High nasal bridge; ArthrogryposisJoint contractures; Premature closure of fontanels; Kyphoscoliosis; Sloping acetabulaeHip dislocation; Slender long bonesFlared metaphysesDislocated radial head; CamptodactylyAdducted thumbs; Rocker-bottom feet; Developmental delayStiff limbsHypertoniaAbnormal EEGSimplified gyral patternPolymicrogyriaCerebellar hypoplasia; Hyperreflexia; Patient cells show a defect in transcription-coupled and global genome nucleotide excision repair]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERCC1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert