1. Panels
  2. Cutaneous photosensitivity with a likely genetic cause
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Cutaneous photosensitivity with a likely genetic cause (Version 3.16)

Level 2: Dermatology

Relevant disorders: R237
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (22 Mar 2023)
Previously signed off versions: v2.0, v1.3
Description
This panel is used for clinical indication 'R237 Cutaneous photosensitivity with a likely genetic cause' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R237 Cutaneous photosensitivity with a likely genetic cause'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.
Panel Activity

12 reviewers

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sharon Whatley (International Porphyria Network)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

12 Entities

12 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green List (high evidence)
ALAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • {Lead poisoning, susceptibility to} 612740
  • Porphyria, acute hepatic 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
Tags
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 Review
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, OMIM:300752
Tags
Green List (high evidence)
ANAPC1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
Green List (high evidence)
CPOX
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Coproporphyria, OMIM:121300
  • Harderoporphyria, OMIM:618892
Tags
  • Q3_25_expert_review
  • Q3_25_MOI
Green List (high evidence)
FECH
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, 1, OMIM:177000
  • protoporphyria, erythropoietic, 1, MONDO:0008319
Tags
Green List (high evidence)
GATA1
4 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital erythropoietic porphyria
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Tags
Green List (high evidence)
PPOX
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Variegate porphyria, OMIM:176200
  • Variegate porphyria, childhood-onset, OMIM:620483
  • variegate porphyria, MONDO:0008297
  • variegate porphyria, childhood-onset, MONDO:0957577
Tags
  • Q3_25_MOI
Green List (high evidence)
RECQL4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Tags
Green List (high evidence)
UROD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Tags
Green List (high evidence)
UROS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
Tags
Green List (high evidence)
UVSSA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • UV-sensitive syndrome 3, 614640
Tags
Amber List (moderate evidence)
HMBS
7 reviews
1 green 1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Porphyria, acute intermittent, OMIM:176000
  • Porphyria, acute intermittent, nonerythroid variant, OMIM:176000
  • Leukoencephalopathy, porphyria-related OMIM:620711
  • leukoencephalopathy, porphyria-related, MONDO:0958226
  • Encephalopathy, porphyria-related, OMIM:620704
  • encephalopathy, porphyria-related, MONDO:0958224
Tags

Major version comments

  • 2023-03-22 16:24 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2022-11-30 14:38 Catherine Snow (Genomics England) promoted panel to 2.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this

    2019-12-12 16:38 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.11i) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

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

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