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Photosensitivity Syndromes (Version 1.8)

Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Cutaneous photosensitivity, HP:0000992
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel was developed and is maintained by VCGS.

It contains genes associated with photosensitivity, in particular DNA repair disorders and porphyrias.
Panel Activity

6 reviewers

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

27 Entities

27 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green List (high evidence)
ALAS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, X-linked 300752
Tags
Green List (high evidence)
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom syndrome, MIM# 210900
Tags
Green List (high evidence)
CPOX
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Coproporphyria 121300
  • Harderoporphyria 618892
Tags
Green List (high evidence)
DDB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Tags
Green List (high evidence)
DHCR7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM# 270400
Tags
Green List (high evidence)
ERCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Tags
Green List (high evidence)
ERCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 1, photosensitive, MIM#601675
Tags
Green List (high evidence)
ERCC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 2, photosensitive, MIM# 616390
  • Xeroderma pigmentosum, group B 61, MIM#0651
Tags
Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group Q, MIM# 615272
  • MONDO:0014108
  • Xeroderma pigmentosum, group F, MIM# 278760
  • MONDO:0010215
  • XFE progeroid syndrome, MIM# 610965
  • MONDO:0012590
Tags
Green List (high evidence)
ERCC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3, MIM# 616570
  • MONDO:0014696
  • Xeroderma pigmentosum, group G, MIM# 278780
  • MONDO:0010216
Tags
Green List (high evidence)
ERCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrooculofacioskeletal syndrome 1, MIM# 214150
  • MONDO:0008955
  • Cockayne syndrome, type B, MIM# 133540
  • MONDO:0019570
  • De Sanctis-Cacchione syndrome, MIM# 278800
  • MONDO:0010217
  • UV-sensitive syndrome 1, MIM# 600630
  • MONDO:0010909
Tags
Green List (high evidence)
ERCC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cockayne syndrome, type A, MIM# 216400
  • MONDO:0019569
  • UV-sensitive syndrome 2, MIM# 614621
  • MONDO:0013829
Tags
Green List (high evidence)
FECH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, 1 177000
Tags
Green List (high evidence)
GTF2H5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 3, photosensitive, MIM# 616395
Tags
Green List (high evidence)
POLH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, variant type, MIM# 278750
  • MONDO:0010214
Tags
Green List (high evidence)
PPOX
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Porphyria variegata (MIM#176200)
Tags
Green List (high evidence)
RECQL4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rothmund-Thomson syndrome, type 2, (MIM#268400)
Tags
Green List (high evidence)
UROD
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Porphyria cutanea tarda
  • Porphyria, hepatoerythropoietic (MIM#176100)
Tags
Green List (high evidence)
UROS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Porphyria, congenital erythropoietic (MIM#263700)
Tags
Green List (high evidence)
UVSSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • UV-sensitive syndrome 3 (MIM#614640)
Tags
Green List (high evidence)
XPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group A , MIM#278700
  • MONDO:0010210
Tags
Green List (high evidence)
XPC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xeroderma pigmentosum, group C, MIM# 278720
  • MONDO:0010211
Tags
Amber List (moderate evidence)
DNA2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated
Tags
  • deep intronic
  • founder
Amber List (moderate evidence)
GATA1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Erythropoietic porphyria
Tags
Amber List (moderate evidence)
RECQL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Photosensitivity
  • facial dysmorphism
  • xeropthalmia
  • skeletal abnormalities
Tags
Red List (low evidence)
ADAR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyschromatosis symmetrica hereditaria , MIM#127400
Tags
Red List (low evidence)
TYR
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type IA, MIM# 203100
Tags

Major version comments

  • 2021-04-24 01:18 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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