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'.

The content of this panel (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/560/?version=1.3) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

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 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.

6 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

  • Rebecca Foulger (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

12 Entities

12 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green 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 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, 300752
  • Anemia, sideroblastic, X-linked, 300751
Tags
Green Green List (high evidence)
CPOX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Harderoporphyria 121300
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
FECH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Erythropoietic Protoporphyria
  • Protoporphyria, erythropoietic, autosomal recessive, 177000
Tags
Green Green List (high evidence)
GATA1
3 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
  • Q3_21_expert_review
  • Q3_21_rating
Green Green List (high evidence)
HMBS
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Porphyria, acute intermittent, 176000
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, nonerythroid variant, 176000
Tags
  • Q3_21_expert_review
Green Green List (high evidence)
PPOX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Porphyria variegata 176200
  • Variegate porphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
RECQL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Rothmund-Thomson syndrome, 268400
Tags
Green 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 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 Green List (high evidence)
UVSSA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • UV-sensitive syndrome 3, 614640
Tags
Amber Amber List (moderate evidence)
ANAPC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
  • for-review
  • Q4_21_NHS_review

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