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
16 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalOtherN/A
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BIALLELIC, autosomal or pseudoautosomalOtherN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A