Activity
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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.6 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosum; ERCC1-Hepatorenal Syndrome to xeroderma pigmentosum, MONDO:0019600; hepatorenal syndrome, MONDO:0001382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.5 | ERCC1 |
Arina Puzriakova Added comment: Comment on publications: PMID: 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome PMID: 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure PMID: 40684071 - hepatorenal syndrome identified in seven individuals from five families carrying biallelic ERCC1 variants. All individuals presented with skin and/or ocular photosensitivity, among other features such as growth restriction, café-au-lait macules, kidney impairment, progressive cholestatic liver disease, and hepatocellular carcinoma. |
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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.5 | ERCC1 | Arina Puzriakova Publications for gene: ERCC1 were set to 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome; 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.4 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Xeroderma Pigmentosum to Xeroderma Pigmentosum; ERCC1-Hepatorenal Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | ERCC1 | Richard Scott classified ERCC1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | ERCC1 | Richard Scott reviewed ERCC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | ERCC1 | Ellen McDonagh classified ERCC1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | ERCC1 | Ellen McDonagh commented on ERCC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||