Monogenic hearing loss
Gene: ERCC1EnsemblGeneIds (GRCh38): ENSG00000012061
EnsemblGeneIds (GRCh37): ENSG00000012061
OMIM: 126380, Gene2Phenotype
ERCC1 is in 15 panels
2 reviews
Maria Bitner-Glindzicz (UCL)
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
Details
- Sources
-
- Expert
- OMIM
- 126380
- Clinvar variants
- Variants in ERCC1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Intellectual disability
- Cholestasis
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Renal tubulopathies
- Paediatric disorders - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert