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Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v3.0 Sarah Leigh promoted panel to version 3.0
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 RNF113A Arina Puzriakova Tag Q3_21_rating was removed from gene: RNF113A.
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 CARS Arina Puzriakova Tag Q4_21_rating was removed from gene: CARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 CARS Arina Puzriakova edited their review of gene: CARS: 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 v2.27 TARS Arina Puzriakova edited their review of gene: TARS: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 MARS Arina Puzriakova edited their review of gene: MARS: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; Changed rating: RED
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 AARS Arina Puzriakova edited their review of gene: AARS: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 RNF113A Arina Puzriakova edited their review of gene: RNF113A: 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 v2.27 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 TARS Arina Puzriakova Source NHS GMS was added to TARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 RNF113A Arina Puzriakova Source Expert Review Green was added to RNF113A.
Source NHS GMS was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 MARS Arina Puzriakova Source Expert Review Red was added to MARS.
Source NHS GMS was added to MARS.
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)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 CARS Arina Puzriakova Source Expert Review Green was added to CARS.
Source NHS GMS was added to CARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 AARS Arina Puzriakova Source NHS GMS was added to AARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 MARS Arina Puzriakova commented on gene: MARS
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 MARS Arina Puzriakova Tag watchlist tag was added to gene: MARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 AARS Arina Puzriakova changed review comment from: Gene was reassessed in view of the recent Green review by Alan Lehmann. An additional case is necessary to allow corroboration of this gene-disease association (added 'watchlist' tag). At present, CARS1 is the only aminoacyl tRNA synthetase gene for which sufficient evidence has been reported to warrant a Green rating on this panel.; to: Gene was reassessed in view of the recent Green review by Alan Lehmann (5 Nov 2021). An additional case is necessary to allow corroboration of this gene-disease association (added 'watchlist' tag). At present, CARS1 is the only aminoacyl tRNA synthetase gene for which sufficient evidence has been reported to warrant a Green rating on this panel.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 AARS Arina Puzriakova commented on gene: AARS
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 AARS Arina Puzriakova Tag watchlist tag was added to gene: AARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 TARS Arina Puzriakova Tag watchlist tag was added to gene: TARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 TARS Arina Puzriakova Classified gene: TARS as Amber List (moderate evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 TARS Arina Puzriakova Added comment: Comment on list classification: Adding this gene as Amber as currently only two unrelated individuals have been reported with variants and trichothiodystrophy (PMID: 31374204). Familial segregation was not reported in either case. Functional studies demonstrate the variants exert a loss-of-function effect but an additional case would help corroborate this gene-disease association (added 'watchlist' tag). At present, CARS1 is the only aminoacyl tRNA synthetase gene for which sufficient evidence has been reported to warrant a Green rating on this panel.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.25 TARS Arina Puzriakova Gene: tars has been classified as Amber List (Moderate Evidence).
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.24 TARS Arina Puzriakova Mode of pathogenicity for gene: TARS was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.23 TARS Arina Puzriakova Publications for gene: TARS were set to PMID 31374204
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.22 TARS Arina Puzriakova Phenotypes for gene: TARS were changed from Trichothiodystrophy 7, nonphotosensitive to Trichothiodystrophy 7, nonphotosensitive, OMIM:618546
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.21 TARS Arina Puzriakova Tag new-gene-name tag was added to gene: TARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.21 CARS Arina Puzriakova Publications for gene: CARS were set to PMID 30824121
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.20 CARS Arina Puzriakova Classified gene: CARS as Amber List (moderate evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.20 CARS Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least four individuals from three unrelated families harbouring different biallelic variants in the CARS gene. Clinical presentation includes ID and brittle hair and nails, features which overlap with the trichothiodystrophy component of this panel. Some supportive functional studies included.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.20 CARS Arina Puzriakova Gene: cars has been classified as Amber List (Moderate Evidence).
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.19 CARS Arina Puzriakova Tag Q4_21_rating tag was added to gene: CARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.19 CARS Arina Puzriakova Tag new-gene-name tag was added to gene: CARS.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.19 CARS Arina Puzriakova Phenotypes for gene: CARS were changed from Microcephaly; Developmental Delay; Brittle Hair to Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 TARS Alan Lehmann reviewed gene: TARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 CARS Alan Lehmann reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 MARS Alan Lehmann reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 AARS Alan Lehmann reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 CARS Michael Yau gene: CARS was added
gene: CARS was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Expert list
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID 30824121
Phenotypes for gene: CARS were set to Microcephaly; Developmental Delay; Brittle Hair
Penetrance for gene: CARS were set to Complete
Review for gene: CARS was set to GREEN
Added comment: Name: cysteinyl-tRNA synthetase 1; Symbol: CARS1 ; HGNC ID: 1493

Current Status: Not in R227 Panel. This gene was added to the DDG2P panel in March 2019 as a amber gene and the reviewer noted the following: "Microcephaly Developmental Delay and Brittle Hair and Nails. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic." Proposed change: GREEN

The CARS1 genes was added to the DDG2P panel in March 2019 as an amber gene and the reviewer noted the following: "Microcephaly Developmental Delay and Brittle Hair and Nails. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic."

In Kuo et al (2019) reported the identification of bi-allelic CARS1 variants in four affected individuals from three families with complex syndromes that include microcephaly, developmental delay, and brittle hair and nails.

Case 1: CARS1 c.1138C>T p.(Gln380Ter) and CARS1 c.1022G>A p.(Arg341His) Case 2 and 3 (related): CARS1 c.1076C>T p.(Ser359Leu) and CARS1 c.1199T>A p. (Leu400Gln)
Case 4: Homozygous CARS1 c.2061dup p.(Ser688fs).

In-silico analysis predict that the variants result in a truncated protein or affect a highly conserved amino acid. Immunoblot analysis using CARS antibodies on protein isolated from the patient’s fibroblast confirmed the presence of a stable truncated protein for c.1138C>T nonsense variant, while the amount of full-length CARS protein was significantly reduced for the c.2061dup frameshifting variant. A possible explanation for this result is the extreme 3’ location of the variant which could allow it to escape nonsense mediated decay. Analysis of the CARS protein from Case 4 showed no change in the level of full-length CARS protein. Yeast complementation studies indicate that the p.(Gln380Ter), p. (Leu400Gln) and p.(Ser688fs) variants prevented yeast cell growth, consistent with a loss-of-function effect. Severely reduced cell growth was observed with the p.(Arg341His) and p.(Ser359Leu) variants, aminoacylation assays showed that these variants reduce enzyme activity. These results all support that each variant results in loss of function.

This report confirms that individuals with two loss of function CARS1 variants are involved in multi-system, recessive disorder that includes microcephaly, developmental delay, and brittle hair and nails. Clinical phenotypes that overlap with TTD individuals.

References: Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Kuo ME, et al. Am J Hum Genet, 2019 Mar 7. PMID 30824121
Sources: Expert list
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 TARS Michael Yau gene: TARS was added
gene: TARS was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Expert list
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to PMID 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive
Penetrance for gene: TARS were set to Complete
Mode of pathogenicity for gene: TARS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: TARS was set to GREEN
Added comment: Name: threonyl-tRNA synthetase 1; Symbol: TARS1; HGNC ID: 11572

Current Status: Not in R227 Panel. This gene was added to the DDG2P panel in Sept 2019 as a amber gene and the reviwer noted the following: "Non-photosensitive trichothiodystrophy. Disease confidence rating in DDG2P: probable. DDG2P mutation consequence: loss of function. DDG2P allelic requirement: biallelic." Proposed change: GREEN

Supporting Evidence:
Theil et al (2021) published a multi-centre WES/WGS sequencing study which screened in a group of 24 NPS-TTD individuals with no molecular diagnosis. TTD18PV and TTD5VI are unrelated individuals initially diagnosed with TTD were found to have the following predicted pathogenic variants in the TARS1 gene:

TTD18PV: TARS1 c.826A>G p.(Lys276Glu) and TARS1 c.1912C>T p.(Arg638Ter)
TTD5VI: Homozygous TARS1 c.680T>C (p.Leu227Pro).

Testing of additional individuals with unresolved NPS-TTD by the authors did not identify any further bi-allelic variants suggesting in their cohort of 47, TARS1 variants account for 4% of NPS-TTD cases.

In-silico analysis suggest that missense variants result in amino acid substitutions that are close to the core catalytic domain of the protein which may affect its catalytic activity. Quantitative RT-PCR analysis showed only a slight reduction in total TARS mRNA levels in TTD18PV’s primary fibroblasts, while allelic-specific qRT-PCR analysis showed that 90% of the total TARS mRNA molecules are from the missense p.(Lys276Glu) TARS variant with the remaining only 10% from the c.1912C>T variant allele. Immunoblot analysis of whole-cell extracts from both patient’s fibroblasts revealed an approximate 20% reduction in the total cellular amount of full-length TARS. This is consistent with these missense variants causing protein instability.

Based on a total of 47 NPS-TTD individuals for bi-allelic TARS1 variants, the authors suggest that TARS1 variants account for 4% of NPS-TTD cases.

References: Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Theil AF et al. Am J Hum Genet, 2019 Aug 1. PMID 31374204
Sources: Expert list
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.18 MARS Eleanor Williams gene: MARS was added
gene: MARS was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Literature
new-gene-name tags were added to gene: MARS.
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to 33909043
Phenotypes for gene: MARS were set to trichothiodystrophy, MONDO:0018053
Review for gene: MARS was set to RED
Added comment: PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability.
Sources: Literature
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.17 AARS Eleanor Williams Classified gene: AARS as Amber List (moderate evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.17 AARS Eleanor Williams Added comment: Comment on list classification: Promoting to amber as 2 cases with plausible disease causing variants in the AARS gene reported.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.17 AARS Eleanor Williams Gene: aars has been classified as Amber List (Moderate Evidence).
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.16 AARS Eleanor Williams gene: AARS was added
gene: AARS was added to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome. Sources: Literature
new-gene-name tags were added to gene: AARS.
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 33909043
Phenotypes for gene: AARS were set to trichothiodystrophy, MONDO:0018053
Review for gene: AARS was set to AMBER
Added comment: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family.
Sources: Literature
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.15 RNF113A Arina Puzriakova Classified gene: RNF113A as Amber List (moderate evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.15 RNF113A Arina Puzriakova Added comment: Comment on list classification: Associated with relevant phenotype in OMIM (MIM# 300953) and as possible Gen2Phen gene for X-linked trichothiodystrophy. At least 3 terminating variants reported in unrelated cases. Supportive functional studies also reported. Upgraded from Red to Amber but this gene should be promoted to Green at the next review.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.15 RNF113A Arina Puzriakova Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.14 RNF113A Arina Puzriakova Publications for gene: RNF113A were set to 25612912
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.13 RNF113A Arina Puzriakova Tag Q3_21_rating tag was added to gene: RNF113A.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.13 RNF113A Arina Puzriakova Phenotypes for gene: RNF113A were changed from ?Trichothiodystrophy 5, nonphotosensitive to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
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.
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 v2.9 RNF113A Michael Yau reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 19377476): (PMID: 25612912): (PMID:31793730): (PMID 31880405): (PMID:32152280); Phenotypes: X-linked nonphotosensitive trichothiodystrophy, intellectual disability, partial corpus callosum agenesis, microcephaly, microphallus, hypergonadotropic hypogonadism; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.9 POLH Arina Puzriakova Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, 278750 to Xeroderma pigmentosum, variant type, OMIM:278750
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.8 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.7 RNF113A Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A.
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.6 Catherine Snow Panel version has been signed off
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.2 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.0 Louise Daugherty promoted panel to version 2.0
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v1.9 Louise Daugherty List of related panels changed from Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders to Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders; R227
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v1.6 Ellen McDonagh Panel name changed from Cockayne and Xeroderma Pigmentosum-like disorders to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
List of related panels changed from Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders to Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders
Panel types changed to Rare Disease 100K; GMS Rare Disease
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MRE11 Louise Daugherty edited their review of MRE11
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MRE11 Louise Daugherty classified MRE11 as Amber List (moderate evidence)
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MRE11 Louise Daugherty Added gene to panel
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Ellen McDonagh promoted panel to version 1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB1 Ellen McDonagh classified DDB1 as red
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB1 Ellen McDonagh commented on DDB1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh marked RNF113A as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh classified RNF113A as red
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MPLKIP Ellen McDonagh classified MPLKIP as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MPLKIP Ellen McDonagh commented on MPLKIP
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 RNF113A Ellen McDonagh added RNF113A to panel
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh reviewed RNF113A
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2E2 Ellen McDonagh added GTF2E2 to panel
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2E2 Ellen McDonagh reviewed GTF2E2
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 DDB1 Ellen McDonagh marked DDB1 as ready
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
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPC Ellen McDonagh marked XPC as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPC Ellen McDonagh classified XPC as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPC Ellen McDonagh commented on XPC
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPA Ellen McDonagh marked XPA as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPA Ellen McDonagh classified XPA as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPA Ellen McDonagh commented on XPA
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh marked POLH as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh classified POLH as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh commented on POLH
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh classified POLH as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh commented on POLH
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC8 Ellen McDonagh marked ERCC8 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC6 Ellen McDonagh marked ERCC6 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC5 Ellen McDonagh marked ERCC5 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC4 Ellen McDonagh marked ERCC4 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC3 Ellen McDonagh marked ERCC3 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC3 Ellen McDonagh classified ERCC3 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC3 Ellen McDonagh commented on ERCC3
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC2 Ellen McDonagh marked ERCC2 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC2 Ellen McDonagh classified ERCC2 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC2 Ellen McDonagh commented on ERCC2
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB2 Ellen McDonagh marked DDB2 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB2 Ellen McDonagh classified DDB2 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB2 Ellen McDonagh commented on DDB2
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2H5 Ellen McDonagh marked GTF2H5 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2H5 Ellen McDonagh classified GTF2H5 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2H5 Ellen McDonagh commented on GTF2H5
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Ellen McDonagh approved panel