Genomics England

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (Version: )

Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders, R227

Signed off date: 22 Mar 2023

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

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16 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DDB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GTF2E2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLH	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	RNF113A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	XPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (Version: 3.02.7)

Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (Version: )