| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Atypical haemolytic uraemic syndrome v3.1 | Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v3.0 | Achchuthan Shanmugasundram promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.17 | CFI | Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: CFI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.17 | CFI | Achchuthan Shanmugasundram commented on gene: CFI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.16 | CFI | Achchuthan Shanmugasundram Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.15 | CFI | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.15 | CFI | Sarah Leigh commented on gene: CFI: Renal insufficiency, glomerulonephritis and pyelonephritis has been reported in Complement factor I deficiency (OMIM:610984)(PMID:17018561; 10352206), therefore it would be appropriate for the mode of inheritance to be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal in this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.15 | CFI | Sarah Leigh Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.14 | CFI | Sarah Leigh Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.13 | CFI | Sarah Leigh Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923; Complement factor I deficiency, OMIM:610984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.12 | CFI | Sarah Leigh Publications for gene: CFI were set to 16621965; 17597211; 15173250; 23685748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.11 | CFI | Sarah Leigh edited their review of gene: CFI: Added comment: Renal insufficiency, glomerulonephritis and pyelonephritis has been reported in Complement factor I deficiency (OMIM:610984)(PMID:17018561; 10352206), therefore it would be appropriate for the mode of inheritance to be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal in this panel.; Changed publications to: 17018561, 10352206; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.11 | CFI | Sarah Leigh Tag Q2_22_MOI tag was added to gene: CFI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.11 | CFI | Sarah Leigh Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 to Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.10 | ADAMTS13 | Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.10 | CFB | Eleanor Williams Added comment: Comment on mode of inheritance: In OMIM this gene is also provisionally associated with Complement factor B deficiency based on evidence from one family with biallelic variants in CFB. However, given the phenotype/level of evidence it is not appropriate to change the mode of inheritance to Both monoallelic and biallelic on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.10 | CFB | Eleanor Williams Mode of inheritance for gene: CFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.9 | C3 | Ivone Leong Phenotypes for gene: C3 were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925 to Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.8 | ADAMTS13 | Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.7 | ADAMTS13 | Eleanor Williams Tag for-review tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.7 | ADAMTS13 | Eleanor Williams Publications for gene: ADAMTS13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.6 | ADAMTS13 | Eleanor Williams Classified gene: ADAMTS13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.6 | ADAMTS13 | Eleanor Williams Gene: adamts13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | ADAMTS13 |
Eleanor Williams commented on gene: ADAMTS13: Associated with Thrombotic thrombocytopenic purpura, hereditary #274150 (AR) in OMIM. After consultation with the Genomics England clinical team it was decided to add this gene as Amber and discuss with the GMS group at the next update. ADAMTS13 may be responsible for a mimic of aHUS, that might be difficult to distinguish clinically. Therefore it is possible that inclusion in a differential diagnosis capacity is relevant. |
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| Atypical haemolytic uraemic syndrome v2.5 | ADAMTS13 | Eleanor Williams changed review comment from: Consulting with the Genomics England clinical team as to whether to add this gene to the panel.; to: Consulting with the Genomics England clinical team as to whether to add this gene to the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | CFHR5 | Eleanor Williams Classified gene: CFHR5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | CFHR5 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. Some evidence to suggest that variants in CFHR5 may be associated with aHUS but there are not 3 clear cases with variants only found in that gene and segregation data, or functional data | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.5 | CFHR5 | Eleanor Williams Gene: cfhr5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.4 | CFHR5 | Eleanor Williams Publications for gene: CFHR5 were set to 22622361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.2 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.1 | CFHR5 | Eleanor Williams reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: None; Publications: 20513133, 22622361, 30905589, 29500241; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.1 | ADAMTS13 | Eleanor Williams commented on gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v2.1 | CFHR5 |
Zornitza Stark gene: CFHR5 was added gene: CFHR5 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFHR5 were set to 22622361 Phenotypes for gene: CFHR5 were set to Nephropathy due to CFHR5 deficiency, MIM# 614809 Review for gene: CFHR5 was set to AMBER Added comment: There is at least one paper specifically linking variants in this gene with aHUS, not quite sure where this gene belongs. Sources: Expert list |
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| Atypical haemolytic uraemic syndrome v2.1 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM# 274150 Review for gene: ADAMTS13 was set to AMBER Added comment: It is difficult to know whether to include this gene on an aHUS panel; there is considerable overlap in the clinical features between TTP and HUS, and we have included it in ours. Sources: Expert list |
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| Atypical haemolytic uraemic syndrome v2.0 | Ellen McDonagh promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.22 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.21 | Eleanor Williams List of related panels changed from to R201 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.20 | THBD | Eleanor Williams Phenotypes for gene: THBD were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 to Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926; Thrombophilia due to thrombomodulin defect 614486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.19 | VTN | Eleanor Williams Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome; aHUS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.18 | VTN | Eleanor Williams Publications for gene: VTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.17 | VTN | Eleanor Williams Mode of inheritance for gene: VTN was changed from to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.16 | INF2 | Eleanor Williams Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.15 | INF2 | Eleanor Williams Publications for gene: INF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.14 | INF2 | Eleanor Williams Mode of inheritance for gene: INF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.13 | MMACHC |
Eleanor Williams changed review comment from: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants. PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations. PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is. PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract. PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.; to: Associated with Methylmalonic aciduria and homocystinuria, cblC type (#277400) in OMIM. PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants. PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations. PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is. PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract. PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported. |
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| Atypical haemolytic uraemic syndrome v1.13 | MMACHC | Eleanor Williams Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.12 | MMACHC | Eleanor Williams Publications for gene: MMACHC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.11 | MMACHC | Eleanor Williams Mode of inheritance for gene: MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.10 | MMACHC | Eleanor Williams Classified gene: MMACHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.10 | MMACHC | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than 3 cases, with different variants reported, although in one case the healthy sister also had the same variants as the proband. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.10 | MMACHC | Eleanor Williams Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | MMACHC |
Eleanor Williams changed review comment from: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants. PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations. PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is. PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract. PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.; to: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants. PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations. PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is. PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract. PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported. |
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| Atypical haemolytic uraemic syndrome v1.9 | MMACHC |
Eleanor Williams commented on gene: MMACHC: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants. PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations. PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is. PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract. PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported. |
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| Atypical haemolytic uraemic syndrome v1.9 | CFHR4 | David Kavanagh reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | THBD | David Kavanagh reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: Thrombophilia due to thrombomodulin defect MIM614486, aHUS MIMN 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | VTN | David Kavanagh reviewed gene: VTN: Rating: RED; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: aHUS; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | INF2 | David Kavanagh reviewed gene: INF2: Rating: RED; Mode of pathogenicity: None; Publications: 27974406; Phenotypes: FSGS MIM 613237, CHT MIM 614455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.9 | MMACHC | David Kavanagh reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24210589, 1593355, 11972107, 12210350, 17874135; Phenotypes: OMIM 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | THBD | Eleanor Williams commented on gene: THBD: THBD was discussed on the NHS GMS renal specialist group call on 2019-02-04. It was decided that this gene should remain red on the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | THBD | Eleanor Williams reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | INF2 | Eleanor Williams reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | MMACHC | Eleanor Williams reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | VTN | Eleanor Williams reviewed gene: VTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | DGKE | Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | CFHR1 | Eleanor Williams reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | CFB | Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | C3 | Eleanor Williams reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | CD46 | Eleanor Williams reviewed gene: CD46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | CFI | Eleanor Williams reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.7 | CFH | Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.6 | THBD | Eleanor Williams Source NHS GMS was added to THBD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome v1.6 | INF2 |
Eleanor Williams gene: INF2 was added gene: INF2 was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS Mode of inheritance for gene: INF2 was set to |
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| Atypical haemolytic uraemic syndrome v1.6 | MMACHC |
Eleanor Williams gene: MMACHC was added gene: MMACHC was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS Mode of inheritance for gene: MMACHC was set to |
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| Atypical haemolytic uraemic syndrome v1.6 | VTN |
Eleanor Williams gene: VTN was added gene: VTN was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS Mode of inheritance for gene: VTN was set to |
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| Atypical haemolytic uraemic syndrome v1.6 | DGKE |
Eleanor Williams Source NHS GMS was added to DGKE. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.6 | CFHR1 |
Eleanor Williams Source NHS GMS was added to CFHR1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.6 | CFB |
Eleanor Williams Source NHS GMS was added to CFB. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.6 | C3 |
Eleanor Williams Source NHS GMS was added to C3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.6 | CD46 |
Eleanor Williams Source NHS GMS was added to CD46. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.6 | CFI |
Eleanor Williams Source NHS GMS was added to CFI. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.6 | CFH |
Eleanor Williams Source NHS GMS was added to CFH. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Atypical haemolytic uraemic syndrome v1.4 |
Ellen McDonagh List of related panels changed from to Panel types changed to Rare Disease 100K; GMS Rare Disease |
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| Atypical haemolytic uraemic syndrome | THBD | Louise Daugherty reviewed gene: THBD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR4 | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | Sarah Leigh promoted panel to version 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | THBD | Sarah Leigh marked THBD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | THBD | Sarah Leigh classified THBD as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | DGKE | Sarah Leigh marked DGKE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | DGKE | Sarah Leigh classified DGKE as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | DGKE | Sarah Leigh added DGKE to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | DGKE | Sarah Leigh reviewed DGKE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | THBD | Sarah Leigh edited their review of THBD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | THBD | Sarah Leigh commented on THBD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFB | Sarah Leigh marked CFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFB | Sarah Leigh classified CFB as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFB | Sarah Leigh commented on CFB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | C3 | Sarah Leigh classified C3 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | C3 | Sarah Leigh marked C3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | C3 | Sarah Leigh commented on C3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFI | Sarah Leigh marked CFI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFI | Sarah Leigh commented on CFI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFH | Sarah Leigh marked CFH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFH | Sarah Leigh commented on CFH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR1 | Sarah Leigh marked CFHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR1 | Sarah Leigh classified CFHR1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR1 | Sarah Leigh added CFHR1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR1 | Sarah Leigh reviewed CFHR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR3 | Sarah Leigh classified CFHR3 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR3 | Sarah Leigh marked CFHR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR3 | Sarah Leigh added CFHR3 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CFHR3 | Sarah Leigh reviewed CFHR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CD46 | Sarah Leigh marked CD46 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical haemolytic uraemic syndrome | CD46 | Sarah Leigh commented on CD46 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||