| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.53 | C1GALT1C1 | Zornitza Stark Phenotypes for gene: C1GALT1C1 were changed from atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related to Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.52 | C1GALT1C1 | Zornitza Stark Publications for gene: C1GALT1C1 were set to 36599939 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.51 | C1GALT1C1 | Zornitza Stark edited their review of gene: C1GALT1C1: Changed publications: 37216524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.51 | C1GALT1C1 | Zornitza Stark Mode of inheritance for gene: C1GALT1C1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.50 | C1GALT1C1 | Zornitza Stark Classified gene: C1GALT1C1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.50 | C1GALT1C1 | Zornitza Stark Gene: c1galt1c1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Zornitza Stark reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Ain Roesley edited their review of gene: C1GALT1C1: Changed phenotypes: atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Ain Roesley Marked gene: C1GALT1C1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Ain Roesley Gene: c1galt1c1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 |
Ain Roesley gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: C1GALT1C1 were set to 36599939 Phenotypes for gene: C1GALT1C1 were set to atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related Review for gene: C1GALT1C1 was set to RED gene: C1GALT1C1 was marked as current diagnostic Added comment: 1x male with de novo p.(Thr89Ile) which is absent in gnomAD v2 and v3 and has very high conservation Sources: Literature |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.48 |
Zornitza Stark HPO terms changed from to Haemolytic anaemia, HP:0001878 List of related panels changed from to Haemolytic anaemia; HP:0001878 |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 | CFB | Zornitza Stark Marked gene: CFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 | CFB | Zornitza Stark Gene: cfb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 | CFB | Zornitza Stark Phenotypes for gene: CFB were changed from to Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.45 | CFB | Zornitza Stark Publications for gene: CFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.44 | CFB | Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | CFB | Zornitza Stark reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33725982, 33273796, 33126970, 31242818; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | C3 | Zornitza Stark Marked gene: C3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | C3 | Zornitza Stark Gene: c3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 | C3 | Zornitza Stark Phenotypes for gene: C3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.42 | C3 | Zornitza Stark Publications for gene: C3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.41 | C3 | Zornitza Stark Mode of inheritance for gene: C3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | C3 | Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18796626, 34248927, 33691638; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | MMACHC | Zornitza Stark Tag treatable tag was added to gene: MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Zornitza Stark Marked gene: TSEN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Chirag Patel Classified gene: TSEN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 | TSEN2 | Chirag Patel Gene: tsen2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.39 | TSEN2 |
Chirag Patel gene: TSEN2 was added gene: TSEN2 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN2 were set to PMID: 34964109 Phenotypes for gene: TSEN2 were set to TRACK syndrome Review for gene: TSEN2 was set to GREEN Added comment: Biallelic variants in TSEN2 cause pontocerebellar hypoplasia. Canpolat et a. (2022) report an intronic recessive founder variant in TSEN2 that results in abnormal splicing of the mRNA of this gene, in 6 individuals from 4 consanguineous families. Individuals were affected with microcephaly, craniofacial malformations, CNS abnormalities, cognitive retardation of variable severity, and all individuals developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life. Bulk RNA sequencing of peripheral blood cells of 4 affected individuals revealed abnormal tRNA transcripts, indicating an alteration of the tRNA biogenesis. Morpholino-mediated skipping of exon 10 of tsen2 in zebrafish produced phenotypes similar to human patients. Proposed as TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure). Sources: Literature |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 | CFHR3 | Zornitza Stark Marked gene: CFHR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 | CFHR3 | Zornitza Stark Gene: cfhr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.38 | CFHR3 | Zornitza Stark Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.37 | CFHR3 | Zornitza Stark Publications for gene: CFHR3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.36 | CFHR3 | Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR3 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR3 | Zornitza Stark reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR1 | Zornitza Stark Marked gene: CFHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR1 | Zornitza Stark Gene: cfhr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.35 | CFHR1 | Zornitza Stark Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.34 | CFHR1 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.34 | CFHR1 | Zornitza Stark Publications for gene: CFHR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.33 | CFHR1 | Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CFHR1 | Zornitza Stark reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CFHR3 | Elena Savva reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CFHR1 | Elena Savva reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CD46 | Zornitza Stark Marked gene: CD46 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CD46 | Zornitza Stark Gene: cd46 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 | CD46 | Zornitza Stark Phenotypes for gene: CD46 were changed from to {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR; Atypical hemolytic uremic syndrome 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.31 | CD46 | Zornitza Stark Publications for gene: CD46 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.30 | CD46 | Zornitza Stark Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.29 | CD46 | Kristin Rigbye reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26054645, 26826462; Phenotypes: {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR, Atypical hemolytic uremic syndrome 2; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.28 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.27 |
Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 | ADAMTS13 | Zornitza Stark Marked gene: ADAMTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 | ADAMTS13 | Zornitza Stark Gene: adamts13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 | ADAMTS13 | Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, OMIM #274150 to Thrombotic thrombocytopenic purpura, familial, OMIM #274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.25 | ADAMTS13 | Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, familial, OMIM #274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.24 | ADAMTS13 | Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 | THBD | Zornitza Stark Marked gene: THBD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 | THBD | Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 | THBD | Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 | THBD | Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.22 | THBD | Zornitza Stark Publications for gene: THBD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.22 | THBD | Zornitza Stark Mode of inheritance for gene: THBD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.21 | THBD | Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 | VTN | Zornitza Stark Marked gene: VTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 | VTN | Zornitza Stark Added comment: Comment when marking as ready: Downgraded to Red after review against Genomics England panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 | VTN | Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 | VTN | Zornitza Stark Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.19 | VTN | Zornitza Stark Publications for gene: VTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.18 | VTN | Zornitza Stark Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.17 | Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.16 | THBD | Chirag Patel Classified gene: THBD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.16 | THBD | Chirag Patel Gene: thbd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 | THBD | Chirag Patel reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, OMIM #612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 | VTN | Zornitza Stark Classified gene: VTN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 | VTN | Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Marked gene: CFHR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Classified gene: CFHR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 | CFHR2 | Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 | CFHR2 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 | CFHR2 |
Zornitza Stark gene: CFHR2 was added gene: CFHR2 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR2 were set to 24334459; 23728178; 20800271 Phenotypes for gene: CFHR2 were set to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN Review for gene: CFHR2 was set to GREEN Added comment: Variants currently not detectable by NGS: the pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause disease are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459. Sources: Expert list |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 | CFHR5 | Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 | ADAMTS13 | Chirag Patel Classified gene: ADAMTS13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 | ADAMTS13 | Chirag Patel Gene: adamts13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.11 | ADAMTS13 | Chirag Patel reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, familial, OMIM #274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.11 | Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 | MMACHC | Zornitza Stark Marked gene: MMACHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 | MMACHC | Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 | MMACHC | Zornitza Stark Classified gene: MMACHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.9 | MMACHC | Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.8 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert list Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Review for gene: MMACHC was set to GREEN Added comment: HUS is a described feature of this metabolic condition. Sources: Expert list |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.4 | VTN | Zornitza Stark edited their review of gene: VTN: Added comment: Over-representation in cases vs controls but no functional data and mechanism unclear at present.; Changed phenotypes: Atypical haemolytic uraemic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.2 | Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_VCGS to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.1 | VTN | Zornitza Stark Marked gene: VTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.1 | VTN | Zornitza Stark Gene: vtn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.1 | VTN | Zornitza Stark Classified gene: VTN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.1 | VTN | Zornitza Stark Gene: vtn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | VTN | Zornitza Stark reviewed gene: VTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | VTN |
Zornitza Stark gene: VTN was added gene: VTN was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VTN was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | THBD |
Zornitza Stark gene: THBD was added gene: THBD was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: THBD was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | DGKE |
Zornitza Stark gene: DGKE was added gene: DGKE was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DGKE was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFI |
Zornitza Stark gene: CFI was added gene: CFI was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFI was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFHR5 |
Zornitza Stark gene: CFHR5 was added gene: CFHR5 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR5 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFHR3 |
Zornitza Stark gene: CFHR3 was added gene: CFHR3 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR3 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFHR1 |
Zornitza Stark gene: CFHR1 was added gene: CFHR1 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFHR1 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFH was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CFB |
Zornitza Stark gene: CFB was added gene: CFB was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFB was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | CD46 |
Zornitza Stark gene: CD46 was added gene: CD46 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CD46 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | C3 |
Zornitza Stark gene: C3 was added gene: C3 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C3 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTS13 was set to Unknown |
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| Atypical Haemolytic Uraemic Syndrome_MPGN v0.0 | Zornitza Stark Added panel Atypical Haemolytic Uraemic Syndrome_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||