1. Panels
  2. Non-acute porphyrias
The latest signed off version for the GMS is v1.4. The current version, shown here, may differ from the signed-off version.

Non-acute porphyrias (Version 1.35)

Level 2: Gastrohepatology

Relevant disorders: R168
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v1.4 (15 Oct 2020)
Description
This panel is used for clinical indication 'R168 Non-acute porphyrias' 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 'R168 Non-acute porphyrias'.

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

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • John McGrath (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

  • Olivia Niblock (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

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (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

9 Entities

9 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green List (high evidence)
ALAD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Porphyria, acute hepatic OMIM:612740
  • porphyria due to ALA dehydratase deficiency MONDO:0013000
Tags
Green List (high evidence)
ALAS2
4 reviews
2 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 Green
  • NHS GMS
  • Other
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, OMIM:300752
Tags
Green List (high evidence)
CPOX
5 reviews
4 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Coproporphyria, OMIM:121300
  • Harderoporphyria, OMIM:618892
Tags
  • Q3_25_expert_review
  • Q3_25_MOI
Green List (high evidence)
FECH
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Protoporphyria, erythropoietic,1 OMIM:177000
  • protoporphyria, erythropoietic, 1 MONDO:0008319
Tags
Green List (high evidence)
HMBS
6 reviews
2 green 2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Porphyria, acute intermittent OMIM:176000
  • acute intermittent porphyria MONDO:0008294
  • Leukoencephalopathy, porphyria-related OMIM:620711
  • leukoencephalopathy, porphyria-related, MONDO:0958226
  • Encephalopathy, porphyria-related, OMIM:620704
  • encephalopathy, porphyria-related, MONDO:0958224
Tags
Green List (high evidence)
PPOX
4 reviews
4 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Variegate porphyria, OMIM:176200
  • Variegate porphyria, childhood-onset, OMIM:620483
  • variegate porphyria, MONDO:0008297
Tags
  • Q3_25_MOI
Green List (high evidence)
UROD
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Porphyria cutanea tarda OMIM:176100
  • Porphyria, hepatoerythropoietic OMIM:176100
  • familial porphyria cutanea tarda MONDO:0008296
Tags
Green List (high evidence)
UROS
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Porphyria, congenital erythropoietic OMIM:263700
  • cutaneous porphyria MONDO:0009902
Tags
Amber List (moderate evidence)
GATA1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367
  • thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Tags
  • watchlist

Major version comments

  • 2019-09-04 09:22 Ivone Leong (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.13) was signed off under NHS Genomic Medicine Service governance on (04/09/2019). 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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