Activity

Filter

Cancel
Date Panel Item Activity
134 actions
Non-acute porphyrias v1.34 HMBS Ida Ertmanska Tag to_be_confirmed_NHSE was removed from gene: HMBS.
Non-acute porphyrias v1.34 HMBS Ida Ertmanska Added comment: Comment on mode of inheritance: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. GMS reviewers note that this panel is used for biochemically undiagnosed porphyria - acute and non-acute. The MOI was updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as suggested by the NHS Genomic Medicine Service.
Non-acute porphyrias v1.34 HMBS Ida Ertmanska Mode of inheritance for gene: HMBS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Non-acute porphyrias v1.33 HMBS Ida Ertmanska commented on gene: HMBS: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before changing the mode of inheritance.
Non-acute porphyrias v1.33 HMBS Ida Ertmanska Tag to_be_confirmed_NHSE tag was added to gene: HMBS.
Non-acute porphyrias v1.33 HMBS Ida Ertmanska Tag Q2_25_ demote_red was removed from gene: HMBS.
Tag Q2_25_ MOI was removed from gene: HMBS.
Tag Q2_25_expert_review was removed from gene: HMBS.
Non-acute porphyrias v1.33 HMBS Ida Ertmanska commented on gene: HMBS
Non-acute porphyrias v1.32 FECH Arina Puzriakova Publications for gene: FECH were set to 857832; 16911284; 39969427; 32873934; 38940544; 11753383; 16385445
Non-acute porphyrias v1.31 FECH Ida Ertmanska Publications for gene: FECH were set to
Non-acute porphyrias v1.30 FECH Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 26th Nov 2025.
Non-acute porphyrias v1.30 FECH Ida Ertmanska Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319 to Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Non-acute porphyrias v1.29 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).
Non-acute porphyrias v1.29 CPOX Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-acute porphyrias v1.29 CPOX Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: CPOX.
Non-acute porphyrias v1.29 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 appropriate MOI is 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'. However, due to low clinical penetrance of monoallelic variants (<1%), 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, 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).
Non-acute porphyrias v1.29 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. Biallelic variants tend to cause earlier onset and more severe symptoms. Hence, the appropriate MOI is 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'. However, due to low clinical penetrance of monoallelic variants (<1%), 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).
Non-acute porphyrias v1.29 HMBS Sharon Whatley commented on gene: HMBS: Update 23/10/2025:
The relevance of the biallelic form of HMBS was discussed at the IPNET (International Porphyria Network) laboratory working group. According to the IPNET definition of acute intermittent porphyria, the biallelic form also meets the definition of an acute porphyria rather than the non-acute. In a clinical context these patients would be investigated using a symptomatic panel. We would recommend that HMBS is not part of the non-acute porphyria panel.
Non-acute porphyrias v1.29 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 disease. 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. 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).
Non-acute porphyrias v1.29 CPOX Ida Ertmanska Phenotypes for gene: CPOX were changed from Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369 to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Publications for gene: CPOX were updated from 27604308; 12227458; 8159699; 7987309; 8990017 to 6886003; 7757079; 8012360; 9454777; 10505225; 11309681; 11074238; 16159891; 21103937; 23236641; 30828546; 33008663; 40296768
Tag Q3_25_MOI tag was added to CPOX.
Non-acute porphyrias v1.28 CPOX Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 6886003, 7757079, 8012360, 9454777, 10505225, 11309681, 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
Non-acute porphyrias v1.28 PPOX Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297 to Variegate porphyria, OMIM:176200; Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297
Non-acute porphyrias v1.27 PPOX Ida Ertmanska edited their review of gene: PPOX: Changed phenotypes to: Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Non-acute porphyrias v1.27 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to 27604308; 19460837; 9811936
Non-acute porphyrias v1.26 PPOX Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: PPOX.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska Deleted their comment
Non-acute porphyrias v1.26 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. Since biallelic variants in PPOX cause more severe symptoms, the mode of inheritance for Non-acute porphyrias should be set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.; 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 (PMIDs: 19460837, 38940544). Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms.
PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025.
Based on available evidence, the mode of inheritance for Non-acute porphyrias should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska changed review comment from: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with onset in adolescence or adulthood (PMIDs: 19460837, 38940544). PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Non-acute porphyrias.; to: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with onset in adolescence or adulthood (PMIDs: 19460837, 38940544). . Based on the available evidence, this gene should be rated Green for Non-acute porphyrias.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska commented on gene: PPOX: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with onset in adolescence or adulthood (PMIDs: 19460837, 38940544). PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Non-acute porphyrias.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska edited their review of gene: PPOX: Changed publications to: 9811936, 10486317, 19460837, 33159949, 35584894, 37879139, 38940544, 40114189
Non-acute porphyrias v1.26 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, MONDO:0008297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-acute porphyrias v1.26 CPOX Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11309681, 23236641, 11074238, 16159891, 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
Non-acute porphyrias v1.26 PPOX Sharon Whatley commented on gene: PPOX: 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: 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 based on biochemical testing including analysis of plasma porphyrin fluorescence emission as the clinical 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.
Non-acute porphyrias v1.26 PPOX Sharon Whatley Deleted their comment
Non-acute porphyrias v1.26 PPOX Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 35584894, 10486317, 38940544, 37879139; Phenotypes: 176200, 620483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Non-acute porphyrias v1.26 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
Non-acute porphyrias v1.26 HMBS Arina Puzriakova commented on gene: HMBS
Non-acute porphyrias v1.26 HMBS Sarah Leigh Tag Q2_25_ demote_red tag was added to gene: HMBS.
Tag Q2_25_ MOI tag was added to gene: HMBS.
Tag Q2_25_expert_review tag was added to gene: HMBS.
Non-acute porphyrias v1.26 HMBS Sarah Leigh reviewed gene: HMBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Non-acute porphyrias v1.26 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308; 2511016; 1714233
Non-acute porphyrias v1.25 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294 to 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
Non-acute porphyrias v1.24 HMBS Sharon Whatley reviewed gene: HMBS: Rating: RED; Mode of pathogenicity: None; Publications: 37540847, 14262853, 1577472, 15534187, 14970743, 27558376, 31153822, 34089223; Phenotypes: 176000, 620711, 620704; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Non-acute porphyrias v1.24 ALAS2 Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Non-acute porphyrias v1.21 GATA1 Sarah Leigh Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367; thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Non-acute porphyrias v1.20 UROS Sarah Leigh Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902
Non-acute porphyrias v1.19 UROS Sarah Leigh Publications for gene: UROS were set to 27604308
Non-acute porphyrias v1.18 UROD Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
Non-acute porphyrias v1.17 UROD Sarah Leigh Publications for gene: UROD were set to 27604308
Non-acute porphyrias v1.16 PPOX Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
Non-acute porphyrias v1.15 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308
Non-acute porphyrias v1.14 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294
Non-acute porphyrias v1.13 FECH Sarah Leigh 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
Non-acute porphyrias v1.12 CPOX Sarah Leigh Deleted their comment
Non-acute porphyrias v1.12 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Added comment: Comment on phenotypes: Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
Non-acute porphyrias v1.10 CPOX Sarah Leigh Publications for gene: CPOX were set to 27604308
Non-acute porphyrias v1.9 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721
Non-acute porphyrias v1.8 ALAD Sarah Leigh Publications for gene: ALAD were set to 27604308
Non-acute porphyrias v1.7 ALAD Sarah Leigh Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000
Non-acute porphyrias v1.5 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Non-acute porphyrias v1.3 Catherine Snow Panel version has been signed off
Non-acute porphyrias v1.0 Ivone Leong promoted panel to version 1.0
Non-acute porphyrias v0.14 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Non-acute porphyrias v0.13 Ivone Leong List of related panels changed from to R168
Non-acute porphyrias v0.11 GATA1 Ivone Leong Marked gene: GATA1 as ready
Non-acute porphyrias v0.11 GATA1 Ivone Leong Gene: gata1 has been classified as Amber List (Moderate Evidence).
Non-acute porphyrias v0.11 UROS Ivone Leong Marked gene: UROS as ready
Non-acute porphyrias v0.11 UROS Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 UROS Ivone Leong Gene: uros has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 UROD Ivone Leong Marked gene: UROD as ready
Non-acute porphyrias v0.11 UROD Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 UROD Ivone Leong Gene: urod has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 PPOX Ivone Leong Marked gene: PPOX as ready
Non-acute porphyrias v0.11 PPOX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 PPOX Ivone Leong Gene: ppox has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 HMBS Ivone Leong Marked gene: HMBS as ready
Non-acute porphyrias v0.11 HMBS Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 HMBS Ivone Leong Gene: hmbs has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 FECH Ivone Leong Marked gene: FECH as ready
Non-acute porphyrias v0.11 FECH Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 FECH Ivone Leong Gene: fech has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 CPOX Ivone Leong Marked gene: CPOX as ready
Non-acute porphyrias v0.11 CPOX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 CPOX Ivone Leong Gene: cpox has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 ALAS2 Ivone Leong Marked gene: ALAS2 as ready
Non-acute porphyrias v0.11 ALAS2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 ALAS2 Ivone Leong Gene: alas2 has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 ALAD Ivone Leong Marked gene: ALAD as ready
Non-acute porphyrias v0.11 ALAD Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 ALAD Ivone Leong Gene: alad has been classified as Green List (High Evidence).
Non-acute porphyrias v0.11 GATA1 Ivone Leong Phenotypes for gene: GATA1 were changed from to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Non-acute porphyrias v0.10 GATA1 Ivone Leong Publications for gene: GATA1 were set to
Non-acute porphyrias v0.9 GATA1 Ivone Leong Mode of inheritance for gene: GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-acute porphyrias v0.8 GATA1 Ivone Leong Tag watchlist tag was added to gene: GATA1.
Non-acute porphyrias v0.8 GATA1 Ivone Leong Classified gene: GATA1 as Amber List (moderate evidence)
Non-acute porphyrias v0.8 GATA1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber as there are only 3 cases associated with Non-Fanconi anaemia; however, variants in this gene will be reported with caution for non-acute porphyria. This is agreed upon by the gastrohepatology specialist group WebEx on 14th Jan 2019. Have put "watch list" taq.
Non-acute porphyrias v0.8 GATA1 Ivone Leong Gene: gata1 has been classified as Amber List (Moderate Evidence).
Non-acute porphyrias v0.7 GATA1 Anna de Burca reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25251786, 17148589; Phenotypes: Congenital erythropoietic porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-acute porphyrias v0.7 ALAS2 Ivone Leong Source Other was added to ALAS2.
Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene ALAS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Publications for gene ALAS2 were changed from to 18760763; 23263862
Non-acute porphyrias v0.7 CPOX Ivone Leong Source Other was added to CPOX.
Mode of inheritance for gene CPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300 for gene: CPOX
Publications for gene CPOX were changed from to 27604308
Non-acute porphyrias v0.7 UROD Ivone Leong Source Other was added to UROD.
Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Publications for gene UROD were changed from to 27604308
Non-acute porphyrias v0.7 FECH Ivone Leong Source Other was added to FECH.
Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Non-acute porphyrias v0.7 UROS Ivone Leong Source Other was added to UROS.
Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) for gene: UROS
Publications for gene UROS were changed from to 27604308
Non-acute porphyrias v0.7 ALAD Ivone Leong Source Other was added to ALAD.
Mode of inheritance for gene ALAD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD
Publications for gene ALAD were changed from to 27604308
Non-acute porphyrias v0.7 PPOX Ivone Leong Source Other was added to PPOX.
Mode of inheritance for gene PPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 for gene: PPOX
Publications for gene PPOX were changed from to 27604308; 19460837; 9811936
Non-acute porphyrias v0.7 HMBS Ivone Leong Source Other was added to HMBS.
Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 for gene: HMBS
Publications for gene HMBS were changed from to 27604308
Non-acute porphyrias v0.4 GATA1 Ivone Leong Source Expert Review Green was added to GATA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 ALAS2 Ivone Leong Source Expert Review Green was added to ALAS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 CPOX Ivone Leong Source Expert Review Green was added to CPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 UROD Ivone Leong Source Expert Review Green was added to UROD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 FECH Ivone Leong Source Expert Review Green was added to FECH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 UROS Ivone Leong Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 ALAD Ivone Leong Source Expert Review Green was added to ALAD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 PPOX Ivone Leong Source Expert Review Green was added to PPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 HMBS Ivone Leong Source Expert Review Green was added to HMBS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.3 GATA1 Ivone Leong reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 ALAS2 Ivone Leong reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 CPOX Ivone Leong reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 UROD Ivone Leong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 FECH Ivone Leong reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 UROS Ivone Leong reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 ALAD Ivone Leong reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 PPOX Ivone Leong reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 HMBS Ivone Leong reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.2 GATA1 Ivone Leong gene: GATA1 was added
gene: GATA1 was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: GATA1 was set to
Non-acute porphyrias v0.2 ALAS2 Ivone Leong gene: ALAS2 was added
gene: ALAS2 was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: ALAS2 was set to
Non-acute porphyrias v0.2 CPOX Ivone Leong gene: CPOX was added
gene: CPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: CPOX was set to
Non-acute porphyrias v0.2 UROD Ivone Leong gene: UROD was added
gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROD was set to
Non-acute porphyrias v0.2 FECH Ivone Leong gene: FECH was added
gene: FECH was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: FECH was set to
Non-acute porphyrias v0.2 UROS Ivone Leong gene: UROS was added
gene: UROS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROS was set to
Non-acute porphyrias v0.2 ALAD Ivone Leong gene: ALAD was added
gene: ALAD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: ALAD was set to
Non-acute porphyrias v0.2 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to
Non-acute porphyrias v0.2 HMBS Ivone Leong gene: HMBS was added
gene: HMBS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: HMBS was set to
Non-acute porphyrias v0.0 Ellen McDonagh Added Panel Non-acute porphyrias
Set panel types to: GMS Rare Disease