Ichthyosis
Gene: ERCC2EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 20 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis can be a feature of the condition, and has been reported in >3 unrelated families. Mouse model recapitulates phenotype including skin abnormalities. Trichothiodystrophy 1has been characterised as a syndromic ichthyosis
Sources: Expert listCreated: 31 Jan 2020, 4:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Trichothiodystrophy 1, photosensitive MIM#601675
- photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Hair disorders
- Prepair 1000+
- Blepharophimosis
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Ichthyosis
- Photosensitivity Syndromes
- Cataract
- Prepair 500+
- Callosome
- Growth failure
- Ectodermal Dysplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ercc2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ercc2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC2 was added gene: ERCC2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 9651581; 30580289; 27862069; 25002996; 20944642 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS) Review for gene: ERCC2 was set to GREEN