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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 | GTF2E2 | Arina Puzriakova Tag Q3_21_rating was removed from gene: GTF2E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 | GTF2E2 | Arina Puzriakova edited their review of gene: GTF2E2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 | GTF2E2 |
Arina Puzriakova Source Expert Review Green was added to GTF2E2. Source NHS GMS was added to GTF2E2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.12 | GTF2E2 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: GTF2E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.12 | GTF2E2 | Arina Puzriakova Publications for gene: GTF2E2 were set to 26996949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.11 | GTF2E2 | Arina Puzriakova Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; 616943 to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.10 | GTF2E2 | Arina Puzriakova Classified gene: GTF2E2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.10 | GTF2E2 |
Arina Puzriakova Added comment: Comment on list classification: Four individuals from 3 different Moroccan families with the same homozygous variant (c.C559T) in the GTF2E2 gene have been identified who all presented with non-photosensitive trichothiodystrophy. Even though this likely represents a founder effect in this population, an additional patient from Asian origin has been identified with a distinct homozygous variant (c.448G>C), corroborating pertinence of GTF2E2 variants in trichothiodystrophy. Furthermore, studies on primary fibroblasts of patients harbouring the founder variant demonstrated a reduction in the cellular levels of both subunits of the transcription initiation factor TFIIE. Overall this is sufficient evidence to promote this gene to Green at the next GMS panel update. |
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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.10 | GTF2E2 | Arina Puzriakova Gene: gtf2e2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.9 | GTF2E2 | Michael Yau reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 26996949): (PMID:28973399):; Phenotypes: Trichothiodystrophy 6, nonphotosensitive:; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | GTF2E2 | Ellen McDonagh classified GTF2E2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | GTF2E2 | Ellen McDonagh classified GTF2E2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | GTF2E2 | Ellen McDonagh added GTF2E2 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | GTF2E2 | Ellen McDonagh reviewed GTF2E2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||