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Cutaneous photosensitivity with a likely genetic cause v3.15 FECH Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 26th Nov 2025.
Cutaneous photosensitivity with a likely genetic cause v3.15 FECH Ida Ertmanska Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic, 1, OMIM:177000; protoporphyria, erythropoietic, 1, MONDO:0008319
Cutaneous photosensitivity with a likely genetic cause v3.14 FECH Ida Ertmanska Publications for gene: FECH were set to
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, this gene is tagged for MOI Expert Review.
CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).; to: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, BIALLELIC, autosomal or pseudoautosomal MOI would be more appropriate. This gene has been tagged for MOI Expert Review. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Biallelic variants tend to cause earlier onset and more severe symptoms. Hence, the MOI should be changed from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.
CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).; to: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, this gene is tagged for MOI Expert Review.
CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: CPOX.
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotypes accessed on 20th October 2025
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Eleanor Williams Phenotypes for gene: CPOX were changed from Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892 to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Cutaneous photosensitivity with a likely genetic cause v3.12 CPOX Ida Ertmanska Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Publications for gene: CPOX were updated from to 6886003; 7757079; 8012360; 9454777; 10505225; 11074238; 16159891; 21103937; 23236641; 30828546; 33008663; 40296768
Tag Q3_25_MOI tag was added to CPOX.
Cutaneous photosensitivity with a likely genetic cause v3.11 CPOX Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 6886003, 7757079, 8012360, 9454777, 10505225, 11074238, 16159891, 21103937, 23236641, 30828546, 33008663, 40296768; Phenotypes: Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.11 PPOX Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 13 October 2025.
Cutaneous photosensitivity with a likely genetic cause v3.11 PPOX Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) to Variegate porphyria, OMIM:176200; Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297; variegate porphyria, childhood-onset, MONDO:0957577
Cutaneous photosensitivity with a likely genetic cause v3.10 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to
Cutaneous photosensitivity with a likely genetic cause v3.9 PPOX Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: PPOX.
Cutaneous photosensitivity with a likely genetic cause v3.9 PPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions along with neurologic and/ or neurodevelopmental symptoms. Hence, the mode of inheritance should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' for Variegate porphyria.; to: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions along with neurologic and/ or neurodevelopmental symptoms. Hence, the mode of inheritance should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' for Cutaneous photosensitivity with a likely genetic cause.
Cutaneous photosensitivity with a likely genetic cause v3.9 PPOX Ida Ertmanska reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10486317, 33159949, 35584894, 37879139, 38940544, 40114189; Phenotypes: Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297, variegate porphyria, childhood-onset, MONDO:0957577; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.9 CPOX Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236641, 11074238, 40296768, 33008663, 30828546, 21103937, 16159891, 10505225, 9454777, 7757079, 8012360, 6886003; Phenotypes: 121300, 618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.9 PPOX Sharon Whatley changed review comment from: Relevant metabolic investigation: plasma porphyrin fluorescence emission
PMID: 10486317 Whatley reports that vVariegate porphyria (VP) is usually classified as an acute porphyria but in 59% of cases skin lesions may be the only manifestation.
PMID: 8290408 Hift reports that tThe cutaneous disease presents with photosensitivity which may result in blistering, erosions, a fragile skin with chronic scarring and pigmentary changes.
PMID: 38940544 Aarsand reports that VP is an autosomal dominant disorder and estimates that individuals with a predisposition for VP in the general population is 1/3,000 (except where founder effects occur e.g. South Africa). A rough estimate of the penetrance of pathogenic variants in this gene is given as 1%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that VP is diagnosed using a biochemical test for plasma porphyrin fluorescence emission as the penetrance is so low.
PMID: 37879139 Assaleh reports that biallelic VP is rare. To the best of our knowledge there are 25 patients (21 families) reported with homozygous VP (PMID: 40114189 Kaiser 37879139 Assaleh, 33159949 Cho and references therein). It usually presents in infancy with severe cutaneous manifestations. In some cases, patients may have hand deformities, nystagmus, growth delay and intellectual disability.
Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the PPOX gene, due to its low clinical penetrance.; to: Relevant metabolic investigation: plasma porphyrin fluorescence emission
PMID: 10486317 Whatley reports that variegate porphyria (VP) is usually classified as an acute porphyria but in 59% of cases skin lesions may be the only manifestation.
PMID: 8290408 Hift reports that the cutaneous disease presents with photosensitivity which may result in blistering, erosions, a fragile skin with chronic scarring and pigmentary changes.
PMID: 38940544 Aarsand reports that VP is an autosomal dominant disorder and estimates that individuals with a predisposition for VP in the general population is 1/3,000 (except where founder effects occur e.g. South Africa). A rough estimate of the penetrance of pathogenic variants in this gene is given as 1%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that VP is diagnosed using a biochemical test for plasma porphyrin fluorescence emission as the penetrance is so low.
PMID: 37879139 Assaleh reports that biallelic VP is rare. To the best of our knowledge there are 25 patients (21 families) reported with homozygous VP (PMID: 40114189 Kaiser 37879139 Assaleh, 33159949 Cho and references therein). It usually presents in infancy with severe cutaneous manifestations. In some cases, patients may have hand deformities, nystagmus, growth delay and intellectual disability.
Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the PPOX gene, due to its low clinical penetrance.
Cutaneous photosensitivity with a likely genetic cause v3.9 PPOX Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10486317, 8290408, 38940544, 37879139, 40114189, 33159949; Phenotypes: 176200, 620483; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.9 FECH Sharon Whatley reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7857832, 16911284, 39969427, 32873934, 38940544, 11753383, 16385445; Phenotypes: 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.9 HMBS Sarah Leigh commented on gene: HMBS: Based on review from Sharon Whatley (International Porphyria Network), changed MOI from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.9 HMBS Sarah Leigh Deleted their comment
Cutaneous photosensitivity with a likely genetic cause v3.9 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 to 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
Cutaneous photosensitivity with a likely genetic cause v3.8 HMBS Sarah Leigh Added comment: Comment on 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
Cutaneous photosensitivity with a likely genetic cause v3.8 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 to Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000
Cutaneous photosensitivity with a likely genetic cause v3.7 HMBS Sarah Leigh Publications for gene: HMBS were set to
Cutaneous photosensitivity with a likely genetic cause v3.6 HMBS Sarah Leigh Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.5 HMBS Sharon Whatley reviewed gene: HMBS: Rating: RED; Mode of pathogenicity: None; Publications: 6962637; Phenotypes: 176000, 620711, 620704; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.5 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400
Cutaneous photosensitivity with a likely genetic cause v3.4 ALAS2 Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Cutaneous photosensitivity with a likely genetic cause v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2023-03-22
Cutaneous photosensitivity with a likely genetic cause v3.0 Arina Puzriakova promoted panel to version 3.0
Cutaneous photosensitivity with a likely genetic cause v2.3 GATA1 Arina Puzriakova Tag Q3_21_rating was removed from gene: GATA1.
Tag Q3_21_expert_review was removed from gene: GATA1.
Cutaneous photosensitivity with a likely genetic cause v2.3 HMBS Arina Puzriakova Tag Q3_22_rating was removed from gene: HMBS.
Tag Q3_22_expert_review was removed from gene: HMBS.
Cutaneous photosensitivity with a likely genetic cause v2.3 GATA1 Arina Puzriakova commented on gene: GATA1
Cutaneous photosensitivity with a likely genetic cause v2.3 HMBS Arina Puzriakova reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v2.2 HMBS Arina Puzriakova Source NHS GMS was added to HMBS.
Source Expert Review Amber was added to HMBS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cutaneous photosensitivity with a likely genetic cause v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-11-30
Cutaneous photosensitivity with a likely genetic cause v2.0 Catherine Snow promoted panel to version 2.0
Cutaneous photosensitivity with a likely genetic cause v1.10 HMBS Eleanor Williams commented on gene: HMBS
Cutaneous photosensitivity with a likely genetic cause v1.10 HMBS Eleanor Williams Tag Q3_21_expert_review was removed from gene: HMBS.
Tag Q3_22_rating tag was added to gene: HMBS.
Tag Q3_22_expert_review tag was added to gene: HMBS.
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Tag Q4_21_NHS_review was removed from gene: ANAPC1.
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Agree. There is an intronic variant which will be outside the targeted region of exomes which has been identified in multiple patients (c.2705-198C-T, NM_022662.3). This gene will also provide difficulties due to pseudogenes - coverage of uniquely mapping reads is ~50% (TWIST exome).""Green - mutations in ANAPC1 cause RTS type 1 (e.g. Ajeawung et al. AJHG 2019)"
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow commented on gene: ANAPC1
Cutaneous photosensitivity with a likely genetic cause v1.9 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v1.8 ANAPC1 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: ANAPC1.
Cutaneous photosensitivity with a likely genetic cause v1.8 ANAPC1 Tom Cullup reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v1.8 HMBS Ivone Leong Tag Q3_21_expert_review tag was added to gene: HMBS.
Cutaneous photosensitivity with a likely genetic cause v1.8 HMBS Ivone Leong commented on gene: HMBS
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong Tag Q3_21_rating tag was added to gene: GATA1.
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong Tag Q3_21_expert_review tag was added to gene: GATA1.
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong Publications for gene: GATA1 were set to
Cutaneous photosensitivity with a likely genetic cause v1.7 ANAPC1 Ivone Leong Classified gene: ANAPC1 as Amber List (moderate evidence)
Cutaneous photosensitivity with a likely genetic cause v1.7 ANAPC1 Ivone Leong Gene: anapc1 has been classified as Amber List (Moderate Evidence).
Cutaneous photosensitivity with a likely genetic cause v1.6 ANAPC1 Ivone Leong gene: ANAPC1 was added
gene: ANAPC1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
for-review tags were added to gene: ANAPC1.
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Review for gene: ANAPC1 was set to AMBER
Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome. 4 of 7 families are homozygous for the same intronic variant (c.2705-198C-T) and the remaining 3 affected families are compound heterozygous (c.2705-198C-T with another variant in the gene). This gene was suggested to be added to this panel as Amber by the Genomics England Clinical Team. The publication did not mention any affected individuals having photosensitivity; however, as it is a mimic of RECQL4, this gene may be appropriate for this panel.

This gene has been tagged with "for-review" so that the GMS specialist group could review this gene for whether it is appropriate for this panel or not.
Sources: Expert Review
Cutaneous photosensitivity with a likely genetic cause v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Cutaneous photosensitivity with a likely genetic cause v1.3 GATA1 Zornitza Stark changed review comment from: Can only find two reports in the literature, same missense variant: PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis. PMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis.; to: Can only find two reports in the literature for this phenotype, same missense variant: PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis. PMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis.
Cutaneous photosensitivity with a likely genetic cause v1.3 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17148589, 25251786; Phenotypes: Erythropoietic porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cutaneous photosensitivity with a likely genetic cause v1.3 HMBS Zornitza Stark reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32377710, 29731767, 25419136, 32197664, 30071891; Phenotypes: Porphyria, acute intermittent (MIM#176000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cutaneous photosensitivity with a likely genetic cause v1.3 Sarah Leigh Panel version has been signed off
Cutaneous photosensitivity with a likely genetic cause v1.0 Louise Daugherty promoted panel to version 1.0
Cutaneous photosensitivity with a likely genetic cause v0.12 Louise Daugherty List of related panels changed from to R237
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Cutaneous photosensitivity with a likely genetic cause v0.11 GATA1 Catherine Snow Source Expert Review Green was added to GATA1.
Added phenotypes Congenital erythropoietic porphyria; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 UROS Catherine Snow Source Expert Review Green was added to UROS.
Added phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700 for gene: UROS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 UROD Catherine Snow Source Expert Review Green was added to UROD.
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 PPOX Catherine Snow Source Expert Review Green was added to PPOX.
Added phenotypes Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) for gene: PPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 HMBS Catherine Snow Source Expert Review Green was added to HMBS.
Added phenotypes Porphyria, acute intermittent, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.11 CPOX Catherine Snow Source Expert Review Green was added to CPOX.
Added phenotypes Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) for gene: CPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAS2 Catherine Snow Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAD Catherine Snow Source Expert Review Green was added to ALAD.
Added phenotypes {Lead poisoning, susceptibility to} 612740; Porphyria, acute hepatic 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Source Expert Review Green was added to FECH.
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.11 ALAS2 Catherine Snow Source Expert Review Green was added to ALAS2.
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.10 GATA1 Catherine Snow reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 UROS Catherine Snow reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 UROD Catherine Snow reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 PPOX Catherine Snow reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 HMBS Catherine Snow reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow commented on gene: FECH: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 CPOX Catherine Snow reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAS2 Catherine Snow commented on gene: ALAS2: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAD Catherine Snow reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.10 ALAS2 Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.9 GATA1 Catherine Snow gene: GATA1 was added
gene: GATA1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Cutaneous photosensitivity with a likely genetic cause v0.9 UROS Catherine Snow gene: UROS was added
gene: UROS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
Cutaneous photosensitivity with a likely genetic cause v0.9 UROD Catherine Snow gene: UROD was added
gene: UROD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Cutaneous photosensitivity with a likely genetic cause v0.9 PPOX Catherine Snow gene: PPOX was added
gene: PPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)
Cutaneous photosensitivity with a likely genetic cause v0.9 HMBS Catherine Snow gene: HMBS was added
gene: HMBS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.9 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAS2 Catherine Snow Added phenotypes Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAD Catherine Snow gene: ALAD was added
gene: ALAD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000
Cutaneous photosensitivity with a likely genetic cause v0.9 ALAS2 Catherine Snow gene: ALAS2 was added
gene: ALAS2 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752
Cutaneous photosensitivity with a likely genetic cause v0.6 UVSSA Rebecca Foulger Classified gene: UVSSA as Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.6 UVSSA Rebecca Foulger Gene: uvssa has been classified as Green List (High Evidence).
Cutaneous photosensitivity with a likely genetic cause v0.5 UVSSA Rebecca Foulger gene: UVSSA was added
gene: UVSSA was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UVSSA were set to 22466610
Phenotypes for gene: UVSSA were set to UV-sensitive syndrome 3, 614640
Added comment: Added UVSSA to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses hydroa vacciniforme as an example condition for Clinical Indication R237. UVSSA is currently the only Green gene on the Hydroa vacciniforme panel (panel #310).
Sources: Other
Cutaneous photosensitivity with a likely genetic cause v0.4 RECQL4 Rebecca Foulger Classified gene: RECQL4 as Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.4 RECQL4 Rebecca Foulger Gene: recql4 has been classified as Green List (High Evidence).
Cutaneous photosensitivity with a likely genetic cause v0.3 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 10319867; 10678659; 11102924; 11471165
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400
Added comment: Added RECQL4 gene to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses Rothmund Thompson syndrome as an example condition for Clinical Indication R237.
Sources: Other
Cutaneous photosensitivity with a likely genetic cause v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Cutaneous photosensitivity with a likely genetic cause v0.0 Ellen McDonagh Added Panel Cutaneous photosensitivity with a likely genetic cause
Set panel types to: GMS Rare Disease