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Bleeding and platelet disorders v0.28 VPS33B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 VWF Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 WAS Louise Daugherty Deleted their comment
Bardet Biedl syndrome v0.3 ALMS1 Anna de Burca Classified gene: ALMS1 as No list
Bardet Biedl syndrome v0.3 ALMS1 Anna de Burca Added comment: Comment on list classification: Associated with Alstrom syndrome rather than Bardet-Biedl syndrome.
Bardet Biedl syndrome v0.3 ALMS1 Anna de Burca Gene: alms1 has been removed from the panel.
Stickler syndrome v1.25 COL9A3 Anna de Burca reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30450842; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v1.26 LCAT Anna de Burca Classified gene: LCAT as Green List (high evidence)
Bilateral congenital or childhood onset cataracts v1.26 LCAT Anna de Burca Added comment: Comment on list classification: Upgraded based on curator review and expert advice.
Bilateral congenital or childhood onset cataracts v1.26 LCAT Anna de Burca Gene: lcat has been classified as Green List (High Evidence).
Bilateral congenital or childhood onset cataracts v1.25 FBN1 Anna de Burca reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: 12525539; Phenotypes: WEILL-MARCHESANI SYNDROME 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.684 MSL3 Ivone Leong Phenotypes for gene: MSL3 were changed from to Muscular hypotonia; Feeding difficulties; Neurodevelopmental delay; Intellectual disability; no OMIM number
Intellectual disability v2.683 MSL3 Ivone Leong Publications for gene: MSL3 were set to 26350204; 19377476; 28135719; 25529582
Intellectual disability v2.682 METTL23 Ivone Leong Classified gene: METTL23 as Green List (high evidence)
Intellectual disability v2.682 METTL23 Ivone Leong Added comment: Comment on list classification: METTL23 has been given a green gene rating based on the evidence provided by Konstantinos Varvagiannis (Other). There is enough evidence to support a gene-disease link.
Intellectual disability v2.682 METTL23 Ivone Leong Gene: mettl23 has been classified as Green List (High Evidence).
Intellectual disability v2.681 METTL23 Ivone Leong Phenotypes for gene: METTL23 were changed from Mental retardation, autosomal recessive 44 (MIM 615942) to Mental retardation, autosomal recessive 44, 615942
Monogenic hearing loss v1.93 DIAPH1 Eleanor Williams commented on gene: DIAPH1
Monogenic hearing loss v1.93 DIABLO Eleanor Williams Publications for gene: DIABLO were set to PMID: 10929711; 10929712; 10972280; 11140637; 11140638; 11242052; 11971981; 15557007; 15814844; 21722859
Monogenic hearing loss v1.92 DIABLO Eleanor Williams Mode of inheritance for gene: DIABLO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v1.91 DIABLO Eleanor Williams Classified gene: DIABLO as Amber List (moderate evidence)
Monogenic hearing loss v1.91 DIABLO Eleanor Williams Added comment: Comment on list classification: Changed rating from red to amber as there are now two cases of variants in this gene associated with hearing loss
Monogenic hearing loss v1.91 DIABLO Eleanor Williams Gene: diablo has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.90 DIABLO Eleanor Williams Classified gene: DIABLO as Amber List (moderate evidence)
Monogenic hearing loss v1.90 DIABLO Eleanor Williams Added comment: Comment on list classification: Changed rating from red to amber as there are now two cases of variants in this gene associated with hearing loss
Monogenic hearing loss v1.90 DIABLO Eleanor Williams Gene: diablo has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.89 DIABLO Eleanor Williams commented on gene: DIABLO
Familial hypercholesterolaemia v1.21 APOE Simon Thomas reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.680 MEIS2 Ivone Leong Publications for gene: MEIS2 were set to 27225850, 24678003, 25712757; 30291340; 30055086
Intellectual disability v2.679 NBEA Ivone Leong Publications for gene: NBEA were set to
Intellectual disability v2.678 MEIS2 Ivone Leong Classified gene: MEIS2 as Green List (high evidence)
Intellectual disability v2.678 MEIS2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the additional evidence provided by Konstantinos Varvagiannis (Other). MEIS2 is associated with a phenotype in OMIM but not in Gene2Phenotype.
Intellectual disability v2.678 MEIS2 Ivone Leong Gene: meis2 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: Added watchlist tag.
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger Tag watchlist tag was added to gene: SLC35A1.
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Amber List (moderate evidence)
Inherited bleeding disorders v1.150 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.149 SLC35A1 Rebecca Foulger gene: SLC35A1 was added
gene: SLC35A1 was added to Inherited bleeding disorders. Sources: Literature
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 15576474; 30115659
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia
Review for gene: SLC35A1 was set to AMBER
Added comment: Added SLC35A1 to the 'Inherited bleeding disorders' panel with Amber rating as suggested by Helen Brittain, based on pattern of bleeding anomalies and macrothrombocytopaenia reported in PMID:15576474 (Martinez-Duncker, 2005. Note a 'leaky' polymorphism) and PMID:30115659 (Kauskot et al. 2018). More cases required for a diagnostic rating.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.29 ACD Louise Daugherty Tag watchlist was removed from gene: ACD.
Likely inborn error of metabolism v1.49 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Likely inborn error of metabolism v1.49 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'.
Likely inborn error of metabolism v1.49 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Intellectual disability v2.677 MEIS2 Ivone Leong Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation to Cleft palate, cardiac defects, and mental retardation; Oral cleft; Abnormal heart morphology; Intellectual disability; Cleft palate, cardiac defects, and mental retardation, 600987
Undiagnosed metabolic disorders v1.92 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.92 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green as agreed with Helen Brittain following review of 2018 paper (PMID:30115659) and promotion to Green on the 'Congenital disorders of glycosylation' panel. In addition to the 'leaky' polymorphism reported in PMID:15576474, there are 3 cases (PMIDs 23873973, 28856833, 30115659) to support causation of glycosylation disorder.
Undiagnosed metabolic disorders v1.92 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Intellectual disability v2.676 MEIS2 Ivone Leong Publications for gene: MEIS2 were set to 27225850, 24678003, 25712757
Intellectual disability v2.675 MCM3AP Ivone Leong Classified gene: MCM3AP as Green List (high evidence)
Intellectual disability v2.675 MCM3AP Ivone Leong Added comment: Comment on list classification: MCM3AP has been given a green gene rating, based on the evidence provided by Konstantinos Varvagiannis (Other) and that there are >3 cases of unrelated patients with variants in MCM3AP who have ID. The gene is associated with a phenotype on OMIM but not Gene2Phenotype.
Intellectual disability v2.675 MCM3AP Ivone Leong Gene: mcm3ap has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.91 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308
Likely inborn error of metabolism v1.48 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308
Congenital disorders of glycosylation v1.24 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Congenital disorders of glycosylation v1.24 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review of 2018 paper (30115659) and clinical agreement from Helen Brittain. Although rating on DD-G2P remains as 'Probable' and the phenotypic spectrum is not consistent, there are sufficient (>3) cases with homozygous or compound het SLC35A1 variants to support causation of glycosylation disorder.
Congenital disorders of glycosylation v1.24 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v1.23 SLC35A1 Rebecca Foulger commented on gene: SLC35A1
Congenital disorders of glycosylation v1.23 SLC35A1 Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IIf, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Congenital disorders of glycosylation v1.22 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 15576474; 23873973
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: Removed watchlist tag after promotion of SLC35A1 to Green.
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Tag watchlist was removed from gene: SLC35A1.
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: A recent PMID:30115659 paper (Kauskot et al. 2018) provides a third SLC35A1 case with a seizure phenotype (the first two cases coming from PMID:23873973 and PMID:28856833).
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.18 SLC35A1 Rebecca Foulger commented on gene: SLC35A1
Early onset or syndromic epilepsy v1.18 SLC35A1 Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585 to Congenital disorder of glycosylation, type IIf, 603585; seizures
Early onset or syndromic epilepsy v1.17 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973; 15576474; 28856833
Cytopenia - NOT Fanconi anaemia v0.31 WRAP53 Louise Daugherty commented on gene: WRAP53: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 3, 613988;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 3; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 WIPF1 Louise Daugherty commented on gene: WIPF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WIPF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Neutropenia, severe congenital, X-linked 300299;Thrombocytopenia, X-linked 313900;Thrombocytopenia, X-linked, intermittent 313900;Wiskott-Aldrich syndrome 301000; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 VPS45 Louise Daugherty commented on gene: VPS45: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285;Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;VPS45 deficiency;Severe congenital neutropenia; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 USB1 Louise Daugherty commented on gene: USB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Poikiloderma with neutropenia 604173;Dyskeratosis congenita; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 TINF2 Louise Daugherty commented on gene: TINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome;Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130;Revesz Syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 187950 Thrombocythemia 1; PMID(s): 28466964; 24085763; 28559357; 29191945
Cytopenia - NOT Fanconi anaemia v0.31 TERT Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Aplastic Anemia;Coronary artery disease;{Dyskeratosis congenita, autosomal recessive 4}, 613989;{Dyskeratosis congenita, autosomal dominant 2}, 613989;{Pulmonary fibrosis, telomere-related, 1}, 614742;{Leukemia, acute myeloid}, 601626;{Melanoma, cutaneous malignant, 9}, 615134; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 TERC Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 TAZ Louise Daugherty commented on gene: TAZ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Barth syndrome 302060; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 SRP72 Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial; PMID(s): 22541560; 29146883
Cytopenia - NOT Fanconi anaemia v0.31 SBDS Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Shwachman-Diamond syndrome 260400; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 SAMD9L Louise Daugherty commented on gene: SAMD9L: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Ataxia-pancytopenia syndrome 159550; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 SAMD9 Louise Daugherty commented on gene: SAMD9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: MIRAGE syndrome, 617053; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 RTEL1 Louise Daugherty commented on gene: RTEL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 615190;Dyskeratosis congenita, autosomal dominant 4 615190; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 RMRP Louise Daugherty commented on gene: RMRP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RMRP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia; Cartilage-hair hypoplasia; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): 22366785; 28128450; 24220582; 17236129
Cytopenia - NOT Fanconi anaemia v0.31 PARN Louise Daugherty commented on gene: PARN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PARN; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; PMID(s): 25893599; 25848748; 26342108
Cytopenia - NOT Fanconi anaemia v0.31 NOP10 Louise Daugherty commented on gene: NOP10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NOP10; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 1 224230; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 NHP2 Louise Daugherty commented on gene: NHP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 613987; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): 10077649; 18024606
Cytopenia - NOT Fanconi anaemia v0.31 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 61744 ?Thrombocytopenia, anemia, and myelofibrosis1; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): 29540340
Cytopenia - NOT Fanconi anaemia v0.31 LAT Louise Daugherty commented on gene: LAT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LAT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Immunodeficiency 52, 617514; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 KLF1 Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 KIF23 Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 JAGN1 Louise Daugherty commented on gene: JAGN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): 11101832
Cytopenia - NOT Fanconi anaemia v0.31 HAX1 Louise Daugherty commented on gene: HAX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 3 Autosomal Dominant;Neutropenia, severe congenital 3, autosomal recessive, 610738; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 GFI1 Louise Daugherty commented on gene: GFI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 GATA2 Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;Familial MDS (Myelodysplastic syndromes);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172;Emberger syndrome, 614038 (includes pancytopenia);{Myelodysplastic syndrome, susceptibility to}, 614286;{Leukemia, acute myeloid, susceptibility to}, 601626;Primary Lymphedema with Myelodysplasia;Immunodeficiency 21;Leukemia, Acute Myeloid;Lymphedema, Primary, With Myelodysplasia;Myelodysplastic Syndrome;Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 G6PC3 Louise Daugherty commented on gene: G6PC3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 4 Autosomal Dominant;Neutropenia, severe congenital 4, autosomal recessive, 612541;Dursun syndrome, 612541;Severe Congenital Neutropenia; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): 25876182; 25516138
Cytopenia - NOT Fanconi anaemia v0.31 ERCC6L2 Louise Daugherty commented on gene: ERCC6L2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bone marrow failure syndrome 2, 615715; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 ELANE Louise Daugherty commented on gene: ELANE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 EFL1 Louise Daugherty commented on gene: EFL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EFL1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617941 Shwachman-Diamond syndrome 2; PMID(s): 29970384, 28331068
Cytopenia - NOT Fanconi anaemia v0.31 DNAJC21 Louise Daugherty commented on gene: DNAJC21: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Pancytopaenia;Bone Marrow Failure;Bone marrow failure syndrome 3, 617052; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 DKC1 Louise Daugherty commented on gene: DKC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 CXCR4 Louise Daugherty commented on gene: CXCR4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: WHIM syndrome, 193670;Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;Severe congenital neutropenia; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 CTC1 Louise Daugherty commented on gene: CTC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 CSF3R Louise Daugherty commented on gene: CSF3R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia;Neutropenia, severe congenital, 7, autosomal recessive 617014; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.31 ACD Louise Daugherty commented on gene: ACD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): 25205116; 25233904
Cytopenia - NOT Fanconi anaemia v0.30 WRAP53 Steve Keeney reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis congenita, autosomal recessive 3, 613988, Dyskeratosis Congenita, Recessive, Dyskeratosis Congenita, Autosomal Recessive, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 WIPF1 Steve Keeney reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2, 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 WAS Steve Keeney reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, X-linked, 300299, Thrombocytopenia, X-linked 313900, Thrombocytopenia, X-linked, intermittent 313900, Wiskott-Aldrich syndrome, 301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.30 VPS45 Steve Keeney reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285, Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency, Severe congenital neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 USB1 Steve Keeney reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Poikiloderma with neutropenia, 604173, Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 TINF2 Steve Keeney reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Revesz Syndrome, Dyskeratosis congenita, autosomal dominant 3, 613990, Revesz syndrome, 268130, Revesz Syndrome, Dyskeratosis congenita, Dyskeratosis Congenita, Dominant, Dyskeratosis Congenita, Autosomal Dominant, 3, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.30 THPO Steve Keeney reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocythemia 1, 187950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.30 TERT Steve Keeney reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aplastic Anemia, Coronary artery disease, {Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989, {Pulmonary fibrosis, telomere-related, 1}, 614742, {Leukemia, acute myeloid}, 601626, {Melanoma, cutaneous malignant, 9}, 615134; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 TERC Steve Keeney reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Dominant, 1, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.30 TAZ Steve Keeney reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Barth syndrome, 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.30 SRP72 Steve Keeney reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Bone Marrow Failure, Familial, Bone marrow failure, familial, 614675, Familial Bone Marrow Failure, Familial MDS (Myelodysplastic syndromes), Bone Marrow Failure, Familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.30 SBDS Steve Keeney reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome, 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 SAMD9L Steve Keeney reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-pancytopenia syndrome, 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.30 SAMD9 Steve Keeney reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MIRAGE syndrome, 617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.30 RTEL1 Steve Keeney reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, 615190, Dyskeratosis congenita, autosomal dominant 4, 615190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 RMRP Steve Keeney reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Severe congenital neutropenia, Cartilage-hair hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 RBM8A Steve Keeney reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 PARN Steve Keeney reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 NOP10 Steve Keeney reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, 224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 NHP2 Steve Keeney reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 MPL Steve Keeney reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia, congenital amegakaryocytic, 604498; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.30 MPIG6B Steve Keeney reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Thrombocytopenia, anemia, and myelofibrosis1, 617441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 MECOM Steve Keeney reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.30 LAT Steve Keeney reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 52, 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 KLF1 Steve Keeney reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.30 KIF23 Steve Keeney reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.30 JAGN1 Steve Keeney reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 HAX1 Steve Keeney reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 3 Autosomal Dominant, Neutropenia, severe congenital 3, autosomal recessive, 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 GFI1 Steve Keeney reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 2 Autosomal Dominant, Neutropenia, Nonimmune Chronic Idiopathic, Of Adults, Neutropenia, severe congenital 2, autosomal dominant, 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.30 GATA2 Steve Keeney reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies, Familial MDS (Myelodysplastic syndromes), Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172, Emberger syndrome, 614038 (includes pancytopenia), {Myelodysplastic syndrome, susceptibility to}, 614286, {Leukemia, acute myeloid, susceptibility to}, 601626, Primary Lymphedema with Myelodysplasia, Immunodeficiency 21, Leukemia, Acute Myeloid, Lymphedema, Primary, With Myelodysplasia, Myelodysplastic Syndrome, Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.30 GATA1 Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric, Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.30 G6PC3 Steve Keeney reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 4 Autosomal Dominant, Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 FYB1 Steve Keeney reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia 3, 273900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 ERCC6L2 Steve Keeney reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bone marrow failure syndrome 2, 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 ELANE Steve Keeney reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.30 EFL1 Steve Keeney reviewed gene: EFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 DNAJC21 Steve Keeney reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pancytopaenia, Bone Marrow Failure, Bone marrow failure syndrome 3, 617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 DKC1 Steve Keeney reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Dyskeratosis congenita, X-linked, 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.30 CXCR4 Steve Keeney reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WHIM syndrome, 193670, Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated, Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.30 CTC1 Steve Keeney reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis Congenita, Recessive, Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 CSF3R Steve Keeney reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Severe congenital neutropenia, Neutropenia, severe congenital, 7, autosomal recessive, 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.30 ACD Steve Keeney reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.674 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: Removed watchlist tag following promotion of SLC35A1 to Green.
Intellectual disability v2.674 SLC35A1 Rebecca Foulger Tag watchlist was removed from gene: SLC35A1.
Cytopenia - NOT Fanconi anaemia v0.29 WRAP53 Louise Daugherty Added phenotypes Dyskeratosis Congenita, Autosomal Recessive, 3; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita, autosomal recessive 3, 613988; Dyskeratosis congenita for gene: WRAP53
Cytopenia - NOT Fanconi anaemia v0.29 WIPF1 Louise Daugherty Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; ?Wiskott-Aldrich syndrome 2, 614493; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent for gene: WIPF1
Cytopenia - NOT Fanconi anaemia v0.29 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent 313900; Thrombocytopenia, X-linked 313900; Wiskott-Aldrich syndrome, 301000; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
Cytopenia - NOT Fanconi anaemia v0.29 VPS45 Louise Daugherty Added phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45
Cytopenia - NOT Fanconi anaemia v0.29 USB1 Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1
Cytopenia - NOT Fanconi anaemia v0.29 TINF2 Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant for gene: TINF2
Cytopenia - NOT Fanconi anaemia v0.29 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Publications for gene THPO were changed from 19553636; 10583217 to 24085763; 28466964; 28559357; 29191945
Cytopenia - NOT Fanconi anaemia v0.29 TERT Louise Daugherty Added phenotypes {Pulmonary fibrosis, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989; Coronary artery disease; {Melanoma, cutaneous malignant, 9}, 615134; Aplastic Anemia; {Leukemia, acute myeloid}, 601626; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Cytopenia - NOT Fanconi anaemia v0.29 TERC Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC
Cytopenia - NOT Fanconi anaemia v0.29 TAZ Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
Cytopenia - NOT Fanconi anaemia v0.29 SRP72 Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72
Publications for gene SRP72 were changed from 22541560 to 22541560; 29146883
Cytopenia - NOT Fanconi anaemia v0.29 SBDS Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
Cytopenia - NOT Fanconi anaemia v0.29 SAMD9L Louise Daugherty Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
Cytopenia - NOT Fanconi anaemia v0.29 SAMD9 Louise Daugherty Added phenotypes MIRAGE syndrome, 617053 for gene: SAMD9
Cytopenia - NOT Fanconi anaemia v0.29 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190 for gene: RTEL1
Cytopenia - NOT Fanconi anaemia v0.29 RMRP Louise Daugherty Added phenotypes Cartilage-hair hypoplasia; Severe congenital neutropenia for gene: RMRP
Cytopenia - NOT Fanconi anaemia v0.29 RBM8A Louise Daugherty Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RBM8A
Publications for gene RBM8A were changed from 22366785; 17236129 to 22366785; 24220582; 28128450; 17236129
Cytopenia - NOT Fanconi anaemia v0.29 PARN Louise Daugherty Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6 for gene: PARN
Cytopenia - NOT Fanconi anaemia v0.29 NOP10 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
Cytopenia - NOT Fanconi anaemia v0.29 NHP2 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
Cytopenia - NOT Fanconi anaemia v0.29 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 for gene: MPL
Publications for gene MPL were changed from 11133753; 10077649 to 10077649; 18024606
Cytopenia - NOT Fanconi anaemia v0.29 MPIG6B Louise Daugherty Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis1, 617441 for gene: MPIG6B
Cytopenia - NOT Fanconi anaemia v0.29 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Publications for gene MECOM were changed from 20091385; 26581901 to 29540340
Cytopenia - NOT Fanconi anaemia v0.29 LAT Louise Daugherty Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Cytopenia - NOT Fanconi anaemia v0.29 KLF1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
Cytopenia - NOT Fanconi anaemia v0.29 KIF23 Louise Daugherty Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
Cytopenia - NOT Fanconi anaemia v0.29 JAGN1 Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1
Publications for gene JAGN1 were changed from 25129144 to 11101832
Cytopenia - NOT Fanconi anaemia v0.29 HAX1 Louise Daugherty Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1
Cytopenia - NOT Fanconi anaemia v0.29 GFI1 Louise Daugherty Added phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1
Cytopenia - NOT Fanconi anaemia v0.29 GATA2 Louise Daugherty Added phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2
Cytopenia - NOT Fanconi anaemia v0.29 GATA1 Louise Daugherty Added phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
Cytopenia - NOT Fanconi anaemia v0.29 G6PC3 Louise Daugherty Added phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3
Cytopenia - NOT Fanconi anaemia v0.29 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Publications for gene FYB1 were changed from to 25516138; 25876182
Cytopenia - NOT Fanconi anaemia v0.29 ERCC6L2 Louise Daugherty Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
Cytopenia - NOT Fanconi anaemia v0.29 ELANE Louise Daugherty Added phenotypes Neutropenia, severe congenital 1, autosomal dominant, 202700; Neutropenia, cyclic, 162800 for gene: ELANE
Cytopenia - NOT Fanconi anaemia v0.29 EFL1 Louise Daugherty Added phenotypes Shwachman-Diamond syndrome 2, 617941 for gene: EFL1
Publications for gene EFL1 were changed from 28331068 to 29970384, 28331068
Cytopenia - NOT Fanconi anaemia v0.29 DNAJC21 Louise Daugherty Added phenotypes Pancytopaenia; Bone Marrow Failure; Bone marrow failure syndrome 3, 617052 for gene: DNAJC21
Cytopenia - NOT Fanconi anaemia v0.29 DKC1 Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1
Cytopenia - NOT Fanconi anaemia v0.29 CXCR4 Louise Daugherty Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4
Cytopenia - NOT Fanconi anaemia v0.29 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1
Cytopenia - NOT Fanconi anaemia v0.29 CSF3R Louise Daugherty Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R
Cytopenia - NOT Fanconi anaemia v0.29 ACD Louise Daugherty Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Intellectual disability v2.674 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Intellectual disability v2.674 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: Green review by Konstantinos Varvagiannis, and currently 3 SLC35A1 cases with ID and seizures (PMIDs: 23873973, 28856833, 30115659).
Intellectual disability v2.674 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Intellectual disability v2.673 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973, 15576474, 28856833; 30115659
Intellectual disability v2.672 SLC35A1 Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type Iif, 603585; intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria to Congenital disorder of glycosylation, type IIf, 603585; intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria
Intellectual disability v2.671 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973, 15576474, 28856833
Cytopenia - NOT Fanconi anaemia v0.27 WRAP53 Louise Daugherty Source North West GLH was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.27 WIPF1 Louise Daugherty Source North West GLH was added to WIPF1.
Cytopenia - NOT Fanconi anaemia v0.27 WAS Louise Daugherty Source North West GLH was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.27 VPS45 Louise Daugherty Source North West GLH was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.27 USB1 Louise Daugherty Source North West GLH was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.27 TINF2 Louise Daugherty Source North West GLH was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.27 THPO Louise Daugherty Source North West GLH was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.27 TERT Louise Daugherty Source North West GLH was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.27 TERC Louise Daugherty Source North West GLH was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.27 TAZ Louise Daugherty Source North West GLH was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.27 SRP72 Louise Daugherty Source North West GLH was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.27 SBDS Louise Daugherty Source North West GLH was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.27 SAMD9L Louise Daugherty Source North West GLH was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.27 SAMD9 Louise Daugherty Source North West GLH was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.27 RTEL1 Louise Daugherty Source North West GLH was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.27 RMRP Louise Daugherty Source North West GLH was added to RMRP.
Cytopenia - NOT Fanconi anaemia v0.27 RBM8A Louise Daugherty Source North West GLH was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.27 PARN Louise Daugherty Source North West GLH was added to PARN.
Cytopenia - NOT Fanconi anaemia v0.27 NOP10 Louise Daugherty Source North West GLH was added to NOP10.
Cytopenia - NOT Fanconi anaemia v0.27 NHP2 Louise Daugherty Source North West GLH was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.27 MPL Louise Daugherty Source North West GLH was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.27 MPIG6B Louise Daugherty Source North West GLH was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.27 MECOM Louise Daugherty Source North West GLH was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.27 LAT Louise Daugherty Source North West GLH was added to LAT.
Cytopenia - NOT Fanconi anaemia v0.27 KLF1 Louise Daugherty Source North West GLH was added to KLF1.
Cytopenia - NOT Fanconi anaemia v0.27 KIF23 Louise Daugherty Source North West GLH was added to KIF23.
Cytopenia - NOT Fanconi anaemia v0.27 JAGN1 Louise Daugherty Source North West GLH was added to JAGN1.
Cytopenia - NOT Fanconi anaemia v0.27 HAX1 Louise Daugherty Source North West GLH was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.27 GFI1 Louise Daugherty Source North West GLH was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.27 GATA2 Louise Daugherty Source North West GLH was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.27 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.27 G6PC3 Louise Daugherty Source North West GLH was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.27 FYB1 Louise Daugherty Source North West GLH was added to FYB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.27 ERCC6L2 Louise Daugherty Source North West GLH was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.27 ELANE Louise Daugherty Source North West GLH was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.27 EFL1 Louise Daugherty Source North West GLH was added to EFL1.
Cytopenia - NOT Fanconi anaemia v0.27 DNAJC21 Louise Daugherty Source North West GLH was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.27 DKC1 Louise Daugherty Source North West GLH was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.27 CXCR4 Louise Daugherty Source North West GLH was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.27 CTC1 Louise Daugherty Source North West GLH was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.27 CSF3R Louise Daugherty Source North West GLH was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.27 ACD Louise Daugherty Source North West GLH was added to ACD.
Intellectual disability v2.670 SLC35A1 Rebecca Foulger edited their review of gene: SLC35A1: Added comment: Summary of evidence: There are 2 existing cases of ID and SLC35A1 variants (a Turkish patient in PMID:23873973, and a German patient in PMID:28856833). There is a further paper linking SLC35A1 to a glycosylation disorder (PMID:15576474) but without an ID or epilepsy phenotype. As noted by Konstantinos Varvagiannis, a 2018 paper (PMID:30115659) now reports 2 siblings with a haematological phenotype and a homozygous p.Ser147Pro variant in SLC35A1. The authors say that the siblings' phenotypes included delayed psychomotor development, epilepsy, ataxia, microcephaly, choreiform movements, and macrothrombocytopenia.; Changed phenotypes: Congenital disorder of glycosylation, type Iif, 603585, intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria
Confirmed Fanconi anaemia or Bloom syndrome v0.20 UBE2T Louise Daugherty commented on gene: UBE2T: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: UBE2T; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Falcon anemia;Fanconi anemia, complementation group T, 616435; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 TOP3A Louise Daugherty commented on gene: TOP3A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TOP3A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 SLX4 Louise Daugherty commented on gene: SLX4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLX4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group P, 613951; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 RAD51C Louise Daugherty commented on gene: RAD51C: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RAD51C; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group O 613390; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 PALB2 Louise Daugherty commented on gene: PALB2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PALB2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group N 610832; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 MAD2L2 Louise Daugherty commented on gene: MAD2L2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MAD2L2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617243 ?Fanconi anemia, complementation group V; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCL Louise Daugherty commented on gene: FANCL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group L, 614083; PMID(s): 12973351;19405097;12724401;25754594;16474160
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCI Louise Daugherty commented on gene: FANCI: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCI; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group I, 609053; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCG Louise Daugherty commented on gene: FANCG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group G, 614082; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCF Louise Daugherty commented on gene: FANCF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group F, 603467; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCE Louise Daugherty commented on gene: FANCE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group E, 600901; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCD2 Louise Daugherty commented on gene: FANCD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group D2, 227646; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCC Louise Daugherty commented on gene: FANCC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group C, 227645; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCB Louise Daugherty commented on gene: FANCB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCA Louise Daugherty commented on gene: FANCA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group A, 227650;Fanconi anemia; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 ERCC4 Louise Daugherty commented on gene: ERCC4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group Q, 615272; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BRIP1 Louise Daugherty commented on gene: BRIP1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRIP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group J 609054; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BRCA2 Louise Daugherty commented on gene: BRCA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group D1 605724; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BRCA1 Louise Daugherty commented on gene: BRCA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BLM Louise Daugherty commented on gene: BLM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bloom syndrome 210900; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.19 UBE2T Steve Keeney reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group T, 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 TOP3A Steve Keeney reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MGRISCE2 (Bloom-like syndrome) 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 SLX4 Steve Keeney reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group P, 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 RAD51C Steve Keeney reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group O, 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 PALB2 Steve Keeney reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group N, 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 MAD2L2 Steve Keeney reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Fanconi anemia, complementation group V, 617243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCL Steve Keeney reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group L, 614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCI Steve Keeney reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group I, 609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCG Steve Keeney reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group G, 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCF Steve Keeney reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group F, 603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCE Steve Keeney reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group E, 600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCD2 Steve Keeney reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group D2, 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCC Steve Keeney reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group C, 227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCB Steve Keeney reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group B, 300514, Fanconi Anemia, X-Linked, Fanconi Anemia Type B, Fanconi Anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCA Steve Keeney reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group A, 227650, Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 ERCC4 Steve Keeney reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BRIP1 Steve Keeney reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group J, 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BRCA2 Steve Keeney reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BRCA1 Steve Keeney reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BLM Steve Keeney reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom syndrome, 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.18 UBE2T Louise Daugherty Added phenotypes Fanconi anemia, complementation group T, 616435 for gene: UBE2T
Confirmed Fanconi anaemia or Bloom syndrome v0.18 TOP3A Louise Daugherty Added phenotypes MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2 for gene: TOP3A
Confirmed Fanconi anaemia or Bloom syndrome v0.18 SLX4 Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group P, 613951 for gene: SLX4
Confirmed Fanconi anaemia or Bloom syndrome v0.18 RAD51C Louise Daugherty Added phenotypes Fanconi anemia, complementation group O, 613390 for gene: RAD51C
Confirmed Fanconi anaemia or Bloom syndrome v0.18 PALB2 Louise Daugherty Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 MAD2L2 Louise Daugherty Added phenotypes ?Fanconi anemia, complementation group V, 617243 for gene: MAD2L2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCL Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group L, 614083 for gene: FANCL
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCI Louise Daugherty Added phenotypes Fanconi anemia, complementation group I, 609053; Fanconi Anemia for gene: FANCI
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCG Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group G, 614082 for gene: FANCG
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCF Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group F, 603467 for gene: FANCF
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCE Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group E, 600901 for gene: FANCE
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCD2 Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group D2, 227646 for gene: FANCD2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCC Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group C, 227645 for gene: FANCC
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCB Louise Daugherty Added phenotypes Fanconi Anaemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCA Louise Daugherty Added phenotypes Fanconi anemia, complementation group A, 227650; Fanconi anemia for gene: FANCA
Confirmed Fanconi anaemia or Bloom syndrome v0.18 ERCC4 Louise Daugherty Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BRIP1 Louise Daugherty Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BRCA2 Louise Daugherty Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BRCA1 Louise Daugherty Added phenotypes Fanconi anemia for gene: BRCA1
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BLM Louise Daugherty Added phenotypes Bloom syndrome, 210900 for gene: BLM
Confirmed Fanconi anaemia or Bloom syndrome v0.16 UBE2T Louise Daugherty Source North West GLH was added to UBE2T.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 TOP3A Louise Daugherty Source North West GLH was added to TOP3A.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 SLX4 Louise Daugherty Source North West GLH was added to SLX4.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 RAD51C Louise Daugherty Source North West GLH was added to RAD51C.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 PALB2 Louise Daugherty Source North West GLH was added to PALB2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 MAD2L2 Louise Daugherty Source North West GLH was added to MAD2L2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCL Louise Daugherty Source North West GLH was added to FANCL.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCI Louise Daugherty Source North West GLH was added to FANCI.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCG Louise Daugherty Source North West GLH was added to FANCG.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCF Louise Daugherty Source North West GLH was added to FANCF.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCE Louise Daugherty Source North West GLH was added to FANCE.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCD2 Louise Daugherty Source North West GLH was added to FANCD2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCC Louise Daugherty Source North West GLH was added to FANCC.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCB Louise Daugherty Source North West GLH was added to FANCB.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCA Louise Daugherty Source North West GLH was added to FANCA.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 ERCC4 Louise Daugherty Source North West GLH was added to ERCC4.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BRIP1 Louise Daugherty Source North West GLH was added to BRIP1.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BRCA2 Louise Daugherty Source North West GLH was added to BRCA2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BRCA1 Louise Daugherty Source North West GLH was added to BRCA1.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BLM Louise Daugherty Source North West GLH was added to BLM.
Intellectual disability v2.670 MCM3AP Ivone Leong Phenotypes for gene: MCM3AP were changed from Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124) to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Rare anaemia v0.28 YARS2 Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 613561; PMID(s): none submitted
Rare anaemia v0.28 TSR2 Louise Daugherty commented on gene: TSR2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; PMID(s): none submitted
Rare anaemia v0.28 TPI1 Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder; PMID(s): none submitted
Rare anaemia v0.28 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Iron-Refractory Iron Deficiency Anemia;Iron refractoryirondeficiencyanemia,206200; PMID(s): none submitted
Rare anaemia v0.28 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Atransferrinemia, 209300;Congenital hypotransferrinemia; PMID(s): none submitted
Rare anaemia v0.28 TCN2 Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.; PMID(s): none submitted
Rare anaemia v0.28 SPTB Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted
Rare anaemia v0.28 SPTA1 Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600;Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140;Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; PMID(s): none submitted
Rare anaemia v0.28 SLC4A1 Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Haemolytic Anemia;RBC membrane abnormality;Cryohydrocytosis,185020;Ovalocytosis, SA type, 166900;Spherocytosis, type 4, 612653; PMID(s): none submitted
Rare anaemia v0.28 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis; Pyridoxine-refractory sideroblastic anemia; PMID(s): none submitted
Rare anaemia v0.28 SLC25A38 Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory 205950; PMID(s): none submitted
Rare anaemia v0.28 SLC19A2 Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome 249270; PMID(s): none submitted
Rare anaemia v0.28 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, hypochromic microcytic, with iron overload 1 206100; PMID(s): none submitted
Rare anaemia v0.28 SEC23B Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia;Anemia, dyserythropoieticcongenital, type II, 224100;ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; PMID(s): none submitted
Rare anaemia v0.28 SBDS Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Shwachman-Diamond syndrome; PMID(s): none submitted
Rare anaemia v0.28 RPS7 Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 8, 612563;Diamond_Blackfan Anemia 8;DIAMOND-BLACKFAN ANEMIA 8; PMID(s): none submitted
Rare anaemia v0.28 RPS29 Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 13, 615909; PMID(s): none submitted
Rare anaemia v0.28 RPS27 Louise Daugherty commented on gene: RPS27: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 17, 617409; PMID(s): none submitted
Rare anaemia v0.28 RPS26 Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10; PMID(s): none submitted
Rare anaemia v0.28 RPS24 Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-blackfan anemia 3, 610629;Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3; PMID(s): none submitted
Rare anaemia v0.28 RPS19 Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1; PMID(s): none submitted
Rare anaemia v0.28 RPS17 Louise Daugherty commented on gene: RPS17: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS17; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 4 612527; PMID(s): none submitted
Rare anaemia v0.28 RPS10 Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;Diamond_Blackfan Anemia 9;DIAMOND-BLACKFAN ANEMIA 9; PMID(s): none submitted
Rare anaemia v0.28 RPL9 Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia; PMID(s): none submitted
Rare anaemia v0.28 RPL5 Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6; PMID(s): none submitted
Rare anaemia v0.28 RPL35A Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5; PMID(s): none submitted
Rare anaemia v0.28 RPL15 Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: ?Diamond-Blackfan anemia 12 615550; PMID(s): none submitted
Rare anaemia v0.28 RPL11 Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 7, 612562;Diamond_Blackfan Anemia 7;DIAMOND-BLACKFAN ANEMIA 7; PMID(s): none submitted
Rare anaemia v0.28 RHAG Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Stomatocytosis;Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000;Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; PMID(s): none submitted
Rare anaemia v0.28 PUS1 Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; PMID(s): none submitted
Rare anaemia v0.28 PKLR Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency, 266200; PMID(s): none submitted
Rare anaemia v0.28 PIEZO1 Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis;Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Hereditary xerocytosis; PMID(s): none submitted
Rare anaemia v0.28 PFKM Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Glycogen storage disease VII, 232800; PMID(s): none submitted
Rare anaemia v0.28 NT5C3A Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, hemolytic, due to UMPH1 deficiency, 266120; PMID(s): none submitted
Rare anaemia v0.28 MTRR Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, 236270; PMID(s): none submitted
Rare anaemia v0.28 MTR Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; PMID(s): none submitted
Rare anaemia v0.28 LPIN2 Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome, 609628; PMID(s): none submitted
Rare anaemia v0.28 KLF1 Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted
Rare anaemia v0.28 KIF23 Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
Rare anaemia v0.28 KCNN4 Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Hereditary Xerocytosis; PMID(s): none submitted
Rare anaemia v0.28 HSPA9 Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted
Rare anaemia v0.28 HK1 Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to hexokinase deficiency, 235700; PMID(s): none submitted
Rare anaemia v0.28 HBG2 Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749; PMID(s): none submitted
Rare anaemia v0.28 HBG1 Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Globin Disorder;Fetal hemoglobin quantitative trait locus 1, 141749; PMID(s): none submitted
Rare anaemia v0.28 HBD Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thalassemia, delta; Thalassemiadue to HbLepore; PMID(s): none submitted
Rare anaemia v0.28 HBB Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749;Erythremias, beta-;Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700;Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749;Methemoglobinemias, beta-;Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903;Thalassemia-beta, dominant inclusion-body, 603902;Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; PMID(s): none submitted
Rare anaemia v0.28 HBA2 Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Erythrocytosis;Heinz body anemia,140700;Hemoglobin H disease, nondeletional, 613978;Hypochromic microcytic anemia;Thalassemia, alpha-, 60413; PMID(s): none submitted
Rare anaemia v0.28 HBA1 Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Erythremias, alpha-;Heinz body anemias, alpha-, 140700;Hemoglobin H disease, nondeletional, 613978;Methemoglobinemias, alpha-;Thalassemias, alpha-, 604131; PMID(s): none submitted
Rare anaemia v0.28 GSS Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130; PMID(s): none submitted
Rare anaemia v0.28 GSR Louise Daugherty commented on gene: GSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
Rare anaemia v0.28 GPI Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; PMID(s): none submitted
Rare anaemia v0.28 GLRX5 Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; PMID(s): none submitted
Rare anaemia v0.28 GCLC Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency; PMID(s): none submitted
Rare anaemia v0.28 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submitted
Rare anaemia v0.28 G6PD Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder; PMID(s): none submitted
Rare anaemia v0.28 EPB42 Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
Rare anaemia v0.28 EPB41 Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis; PMID(s): none submitted
Rare anaemia v0.28 DHFR Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; PMID(s): none submitted
Rare anaemia v0.28 CYB5R3 Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted
Rare anaemia v0.28 CUBN Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia; PMID(s): none submitted
Rare anaemia v0.28 COX4I2 Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; PMID(s): none submitted
Rare anaemia v0.28 CDAN1 Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyserythropoietic anemia, congenital, type Ia 224120; PMID(s): none submitted
Rare anaemia v0.28 CD59 Louise Daugherty commented on gene: CD59: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CD59; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 305000 Dyskeratosis congenita, X-linked; PMID(s): none submitted
Rare anaemia v0.28 C15orf41 Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15orf41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib 615631; PMID(s): none submitted
Rare anaemia v0.28 ANK1 Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Spherocytosis, type 1,182900; PMID(s): none submitted
Rare anaemia v0.28 AMN Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia-1, Norwegian type, 261100; PMID(s): none submitted
Rare anaemia v0.28 ALDOA Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Glycogen storage disease;Glycogen storage disease XII, 611881;Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency; PMID(s): none submitted
Rare anaemia v0.28 ALAS2 Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Anemia, sideroblastic, 1 300751; PMID(s): none submitted
Rare anaemia v0.28 AK1 Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; PMID(s): none submitted
Rare anaemia v0.28 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
Rare anaemia v0.28 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
Rare anaemia v0.28 ABCB7 Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310; PMID(s): none submitted
Rare genetic inflammatory skin disorders v0.5 XYLT2 Rebecca Foulger Source London North GLH was added to XYLT2.
Rare genetic inflammatory skin disorders v0.5 AGPS Rebecca Foulger Source London North GLH was added to AGPS.
Rare genetic inflammatory skin disorders v0.5 TREX1 Rebecca Foulger Source London North GLH was added to TREX1.
Rare genetic inflammatory skin disorders v0.5 TMEM173 Rebecca Foulger Source London North GLH was added to TMEM173.
Rare genetic inflammatory skin disorders v0.5 STAT3 Rebecca Foulger Source London North GLH was added to STAT3.
Rare genetic inflammatory skin disorders v0.5 SLC39A4 Rebecca Foulger Source London North GLH was added to SLC39A4.
Rare genetic inflammatory skin disorders v0.5 SH3PXD2B Rebecca Foulger Source London North GLH was added to SH3PXD2B.
Rare genetic inflammatory skin disorders v0.5 SAMHD1 Rebecca Foulger Source London North GLH was added to SAMHD1.
Rare genetic inflammatory skin disorders v0.5 RAG2 Rebecca Foulger Source London North GLH was added to RAG2.
Rare genetic inflammatory skin disorders v0.5 RAG1 Rebecca Foulger Source London North GLH was added to RAG1.
Rare genetic inflammatory skin disorders v0.5 OSMR Rebecca Foulger Source London North GLH was added to OSMR.
Rare genetic inflammatory skin disorders v0.5 NSDHL Rebecca Foulger Source London North GLH was added to NSDHL.
Rare genetic inflammatory skin disorders v0.5 NOD2 Rebecca Foulger Source London North GLH was added to NOD2.
Rare genetic inflammatory skin disorders v0.5 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Rare genetic inflammatory skin disorders v0.5 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Rare genetic inflammatory skin disorders v0.5 KIT Rebecca Foulger Source London North GLH was added to KIT.
Rare genetic inflammatory skin disorders v0.5 IL36RN Rebecca Foulger Source London North GLH was added to IL36RN.
Rare genetic inflammatory skin disorders v0.5 IL1RN Rebecca Foulger Source London North GLH was added to IL1RN.
Rare genetic inflammatory skin disorders v0.5 IKBKG Rebecca Foulger Source London North GLH was added to IKBKG.
Rare genetic inflammatory skin disorders v0.5 GJB4 Rebecca Foulger Source London North GLH was added to GJB4.
Rare genetic inflammatory skin disorders v0.5 GJB3 Rebecca Foulger Source London North GLH was added to GJB3.
Rare genetic inflammatory skin disorders v0.5 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Rare genetic inflammatory skin disorders v0.5 FLG Rebecca Foulger Source London North GLH was added to FLG.
Rare genetic inflammatory skin disorders v0.5 EDA Rebecca Foulger Source London North GLH was added to EDA.
Rare genetic inflammatory skin disorders v0.5 DOCK8 Rebecca Foulger Source London North GLH was added to DOCK8.
Rare genetic inflammatory skin disorders v0.5 DCLRE1C Rebecca Foulger Source London North GLH was added to DCLRE1C.
Rare genetic inflammatory skin disorders v0.5 CYBB Rebecca Foulger Source London North GLH was added to CYBB.
Rare genetic inflammatory skin disorders v0.5 CSTA Rebecca Foulger Source London North GLH was added to CSTA.
Rare genetic inflammatory skin disorders v0.5 CARD9 Rebecca Foulger Source London North GLH was added to CARD9.
Rare genetic inflammatory skin disorders v0.5 CARD14 Rebecca Foulger Source London North GLH was added to CARD14.
Rare genetic inflammatory skin disorders v0.5 ADA2 Rebecca Foulger Source London North GLH was added to ADA2.
Mosaic skin disorders - deep sequencing v0.7 TYRP1 Rebecca Foulger Source London North GLH was added to TYRP1.
Mosaic skin disorders - deep sequencing v0.7 TYR Rebecca Foulger Source London North GLH was added to TYR.
Mosaic skin disorders - deep sequencing v0.7 TERT Rebecca Foulger Source London North GLH was added to TERT.
Mosaic skin disorders - deep sequencing v0.7 SPRED1 Rebecca Foulger Source London North GLH was added to SPRED1.
Mosaic skin disorders - deep sequencing v0.7 SMO Rebecca Foulger Source London North GLH was added to SMO.
Mosaic skin disorders - deep sequencing v0.7 RASA1 Rebecca Foulger Source London North GLH was added to RASA1.
Mosaic skin disorders - deep sequencing v0.7 PTPN11 Rebecca Foulger Source London North GLH was added to PTPN11.
Mosaic skin disorders - deep sequencing v0.7 PTEN Rebecca Foulger Source London North GLH was added to PTEN.
Mosaic skin disorders - deep sequencing v0.7 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Mosaic skin disorders - deep sequencing v0.7 NRAS Rebecca Foulger Source London North GLH was added to NRAS.
Mosaic skin disorders - deep sequencing v0.7 NOD2 Rebecca Foulger Source London North GLH was added to NOD2.
Mosaic skin disorders - deep sequencing v0.7 NF1 Rebecca Foulger Source London North GLH was added to NF1.
Mosaic skin disorders - deep sequencing v0.7 NDUFB11 Rebecca Foulger Source London North GLH was added to NDUFB11.
Mosaic skin disorders - deep sequencing v0.7 MVK Rebecca Foulger Source London North GLH was added to MVK.
Mosaic skin disorders - deep sequencing v0.7 MTOR Rebecca Foulger Source London North GLH was added to MTOR.
Mosaic skin disorders - deep sequencing v0.7 MAP3K3 Rebecca Foulger Source London North GLH was added to MAP3K3.
Mosaic skin disorders - deep sequencing v0.7 MAP2K1 Rebecca Foulger Source London North GLH was added to MAP2K1.
Mosaic skin disorders - deep sequencing v0.7 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Mosaic skin disorders - deep sequencing v0.7 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Mosaic skin disorders - deep sequencing v0.7 KRAS Rebecca Foulger Source London North GLH was added to KRAS.
Mosaic skin disorders - deep sequencing v0.7 KITLG Rebecca Foulger Source London North GLH was added to KITLG.
Mosaic skin disorders - deep sequencing v0.7 JAK2 Rebecca Foulger Source London North GLH was added to JAK2.
Mosaic skin disorders - deep sequencing v0.7 IDH2 Rebecca Foulger Source London North GLH was added to IDH2.
Mosaic skin disorders - deep sequencing v0.7 IDH1 Rebecca Foulger Source London North GLH was added to IDH1.
Mosaic skin disorders - deep sequencing v0.7 HRAS Rebecca Foulger Source London North GLH was added to HRAS.
Mosaic skin disorders - deep sequencing v0.7 HCCS Rebecca Foulger Source London North GLH was added to HCCS.
Mosaic skin disorders - deep sequencing v0.7 GNAS Rebecca Foulger Source London North GLH was added to GNAS.
Mosaic skin disorders - deep sequencing v0.7 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Mosaic skin disorders - deep sequencing v0.7 GNA14 Rebecca Foulger Source London North GLH was added to GNA14.
Mosaic skin disorders - deep sequencing v0.7 GNA11 Rebecca Foulger Source London North GLH was added to GNA11.
Mosaic skin disorders - deep sequencing v0.7 FGFR3 Rebecca Foulger Source London North GLH was added to FGFR3.
Mosaic skin disorders - deep sequencing v0.7 FGFR1 Rebecca Foulger Source London North GLH was added to FGFR1.
Mosaic skin disorders - deep sequencing v0.7 COX7B Rebecca Foulger Source London North GLH was added to COX7B.
Mosaic skin disorders - deep sequencing v0.7 AKT3 Rebecca Foulger Source London North GLH was added to AKT3.
Mosaic skin disorders - deep sequencing v0.7 AKT2 Rebecca Foulger Source London North GLH was added to AKT2.
Mosaic skin disorders - deep sequencing v0.7 AKT1 Rebecca Foulger Source London North GLH was added to AKT1.
Mosaic skin disorders - deep sequencing v0.7 ACTB Rebecca Foulger Source London North GLH was added to ACTB.
Vascular skin disorders v0.5 VEGFA Rebecca Foulger Source London North GLH was added to VEGFA.
Vascular skin disorders v0.5 IDH2 Rebecca Foulger Source London North GLH was added to IDH2.
Vascular skin disorders v0.5 IDH1 Rebecca Foulger Source London North GLH was added to IDH1.
Vascular skin disorders v0.5 ANTXR1 Rebecca Foulger Source London North GLH was added to ANTXR1.
Vascular skin disorders v0.5 AGGF1 Rebecca Foulger Source London North GLH was added to AGGF1.
Vascular skin disorders v0.5 TMEM173 Rebecca Foulger Source London North GLH was added to TMEM173.
Vascular skin disorders v0.5 TEK Rebecca Foulger Source London North GLH was added to TEK.
Vascular skin disorders v0.5 SOX18 Rebecca Foulger Source London North GLH was added to SOX18.
Vascular skin disorders v0.5 SMAD4 Rebecca Foulger Source London North GLH was added to SMAD4.
Vascular skin disorders v0.5 SCN9A Rebecca Foulger Source London North GLH was added to SCN9A.
Vascular skin disorders v0.5 RASA1 Rebecca Foulger Source London North GLH was added to RASA1.
Vascular skin disorders v0.5 PIK3R2 Rebecca Foulger Source London North GLH was added to PIK3R2.
Vascular skin disorders v0.5 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Vascular skin disorders v0.5 KRIT1 Rebecca Foulger Source London North GLH was added to KRIT1.
Vascular skin disorders v0.5 KDR Rebecca Foulger Source London North GLH was added to KDR.
Vascular skin disorders v0.5 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Vascular skin disorders v0.5 GNA11 Rebecca Foulger Source London North GLH was added to GNA11.
Vascular skin disorders v0.5 GLMN Rebecca Foulger Source London North GLH was added to GLMN.
Vascular skin disorders v0.5 FOXC2 Rebecca Foulger Source London North GLH was added to FOXC2.
Vascular skin disorders v0.5 FLT4 Rebecca Foulger Source London North GLH was added to FLT4.
Vascular skin disorders v0.5 F12 Rebecca Foulger Source London North GLH was added to F12.
Vascular skin disorders v0.5 EPHB4 Rebecca Foulger Source London North GLH was added to EPHB4.
Vascular skin disorders v0.5 ENG Rebecca Foulger Source London North GLH was added to ENG.
Vascular skin disorders v0.5 CCBE1 Rebecca Foulger Source London North GLH was added to CCBE1.
Vascular skin disorders v0.5 ATR Rebecca Foulger Source London North GLH was added to ATR.
Vascular skin disorders v0.5 ATM Rebecca Foulger Source London North GLH was added to ATM.
Vascular skin disorders v0.5 ACVRL1 Rebecca Foulger Source London North GLH was added to ACVRL1.
Epidermodysplasia verruciformis v0.5 TMC8 Rebecca Foulger Source London North GLH was added to TMC8.
Epidermodysplasia verruciformis v0.5 TMC6 Rebecca Foulger Source London North GLH was added to TMC6.
Epidermodysplasia verruciformis v0.5 CIB1 Rebecca Foulger Source London North GLH was added to CIB1.
Pigmentary skin disorders v0.8 VDR Rebecca Foulger Source London North GLH was added to VDR.
Pigmentary skin disorders v0.8 OFD1 Rebecca Foulger Source London North GLH was added to OFD1.
Pigmentary skin disorders v0.8 NOP10 Rebecca Foulger Source London North GLH was added to NOP10.
Pigmentary skin disorders v0.8 IRF4 Rebecca Foulger Source London North GLH was added to IRF4.
Pigmentary skin disorders v0.8 FLNA Rebecca Foulger Source London North GLH was added to FLNA.
Pigmentary skin disorders v0.8 BNC2 Rebecca Foulger Source London North GLH was added to BNC2.
Pigmentary skin disorders v0.8 ASIP Rebecca Foulger Source London North GLH was added to ASIP.
Pigmentary skin disorders v0.8 WRAP53 Rebecca Foulger Source London North GLH was added to WRAP53.
Pigmentary skin disorders v0.8 USB1 Rebecca Foulger Source London North GLH was added to USB1.
Pigmentary skin disorders v0.8 TYRP1 Rebecca Foulger Source London North GLH was added to TYRP1.
Pigmentary skin disorders v0.8 TYR Rebecca Foulger Source London North GLH was added to TYR.
Pigmentary skin disorders v0.8 TSC2 Rebecca Foulger Source London North GLH was added to TSC2.
Pigmentary skin disorders v0.8 TSC1 Rebecca Foulger Source London North GLH was added to TSC1.
Pigmentary skin disorders v0.8 TMC8 Rebecca Foulger Source London North GLH was added to TMC8.
Pigmentary skin disorders v0.8 TMC6 Rebecca Foulger Source London North GLH was added to TMC6.
Pigmentary skin disorders v0.8 TINF2 Rebecca Foulger Source London North GLH was added to TINF2.
Pigmentary skin disorders v0.8 TERT Rebecca Foulger Source London North GLH was added to TERT.
Pigmentary skin disorders v0.8 TERC Rebecca Foulger Source London North GLH was added to TERC.
Pigmentary skin disorders v0.8 STK11 Rebecca Foulger Source London North GLH was added to STK11.
Pigmentary skin disorders v0.8 SPRED1 Rebecca Foulger Source London North GLH was added to SPRED1.
Pigmentary skin disorders v0.8 SOX18 Rebecca Foulger Source London North GLH was added to SOX18.
Pigmentary skin disorders v0.8 SOX10 Rebecca Foulger Source London North GLH was added to SOX10.
Pigmentary skin disorders v0.8 SOS1 Rebecca Foulger Source London North GLH was added to SOS1.
Pigmentary skin disorders v0.8 SNAI2 Rebecca Foulger Source London North GLH was added to SNAI2.
Pigmentary skin disorders v0.8 SLX4 Rebecca Foulger Source London North GLH was added to SLX4.
Pigmentary skin disorders v0.8 SLC45A2 Rebecca Foulger Source London North GLH was added to SLC45A2.
Pigmentary skin disorders v0.8 SLC29A3 Rebecca Foulger Source London North GLH was added to SLC29A3.
Pigmentary skin disorders v0.8 SLC24A5 Rebecca Foulger Source London North GLH was added to SLC24A5.
Pigmentary skin disorders v0.8 SHOC2 Rebecca Foulger Source London North GLH was added to SHOC2.
Pigmentary skin disorders v0.8 SASH1 Rebecca Foulger Source London North GLH was added to SASH1.
Pigmentary skin disorders v0.8 SAMD9 Rebecca Foulger Source London North GLH was added to SAMD9.
Pigmentary skin disorders v0.8 RIT1 Rebecca Foulger Source London North GLH was added to RIT1.
Pigmentary skin disorders v0.8 RECQL4 Rebecca Foulger Source London North GLH was added to RECQL4.
Pigmentary skin disorders v0.8 RAF1 Rebecca Foulger Source London North GLH was added to RAF1.
Pigmentary skin disorders v0.8 RAB27A Rebecca Foulger Source London North GLH was added to RAB27A.
Pigmentary skin disorders v0.8 PTPN11 Rebecca Foulger Source London North GLH was added to PTPN11.
Pigmentary skin disorders v0.8 PTEN Rebecca Foulger Source London North GLH was added to PTEN.
Pigmentary skin disorders v0.8 PSENEN Rebecca Foulger Source London North GLH was added to PSENEN.
Pigmentary skin disorders v0.8 PRKAR1A Rebecca Foulger Source London North GLH was added to PRKAR1A.
Pigmentary skin disorders v0.8 PORCN Rebecca Foulger Source London North GLH was added to PORCN.
Pigmentary skin disorders v0.8 POGLUT1 Rebecca Foulger Source London North GLH was added to POGLUT1.
Pigmentary skin disorders v0.8 POFUT1 Rebecca Foulger Source London North GLH was added to POFUT1.
Pigmentary skin disorders v0.8 PMS2 Rebecca Foulger Source London North GLH was added to PMS2.
Pigmentary skin disorders v0.8 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Pigmentary skin disorders v0.8 PAX3 Rebecca Foulger Source London North GLH was added to PAX3.
Pigmentary skin disorders v0.8 PALB2 Rebecca Foulger Source London North GLH was added to PALB2.
Pigmentary skin disorders v0.8 OSMR Rebecca Foulger Source London North GLH was added to OSMR.
Pigmentary skin disorders v0.8 OCA2 Rebecca Foulger Source London North GLH was added to OCA2.
Pigmentary skin disorders v0.8 NRAS Rebecca Foulger Source London North GLH was added to NRAS.
Pigmentary skin disorders v0.8 NF2 Rebecca Foulger Source London North GLH was added to NF2.
Pigmentary skin disorders v0.8 NF1 Rebecca Foulger Source London North GLH was added to NF1.
Pigmentary skin disorders v0.8 MYO5A Rebecca Foulger Source London North GLH was added to MYO5A.
Pigmentary skin disorders v0.8 MTOR Rebecca Foulger Source London North GLH was added to MTOR.
Pigmentary skin disorders v0.8 MSH6 Rebecca Foulger Source London North GLH was added to MSH6.
Pigmentary skin disorders v0.8 MSH2 Rebecca Foulger Source London North GLH was added to MSH2.
Pigmentary skin disorders v0.8 MLH1 Rebecca Foulger Source London North GLH was added to MLH1.
Pigmentary skin disorders v0.8 MITF Rebecca Foulger Source London North GLH was added to MITF.
Pigmentary skin disorders v0.8 MC1R Rebecca Foulger Source London North GLH was added to MC1R.
Pigmentary skin disorders v0.8 MAP2K2 Rebecca Foulger Source London North GLH was added to MAP2K2.
Pigmentary skin disorders v0.8 LYST Rebecca Foulger Source London North GLH was added to LYST.
Pigmentary skin disorders v0.8 KRT5 Rebecca Foulger Source London North GLH was added to KRT5.
Pigmentary skin disorders v0.8 KRT14 Rebecca Foulger Source London North GLH was added to KRT14.
Pigmentary skin disorders v0.8 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Pigmentary skin disorders v0.8 KRAS Rebecca Foulger Source London North GLH was added to KRAS.
Pigmentary skin disorders v0.8 KITLG Rebecca Foulger Source London North GLH was added to KITLG.
Pigmentary skin disorders v0.8 KIT Rebecca Foulger Source London North GLH was added to KIT.
Pigmentary skin disorders v0.8 HRAS Rebecca Foulger Source London North GLH was added to HRAS.
Pigmentary skin disorders v0.8 HPS1 Rebecca Foulger Source London North GLH was added to HPS1.
Pigmentary skin disorders v0.8 GPNMB Rebecca Foulger Source London North GLH was added to GPNMB.
Pigmentary skin disorders v0.8 GNAS Rebecca Foulger Source London North GLH was added to GNAS.
Pigmentary skin disorders v0.8 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Pigmentary skin disorders v0.8 GNA11 Rebecca Foulger Source London North GLH was added to GNA11.
Pigmentary skin disorders v0.8 GJB4 Rebecca Foulger Source London North GLH was added to GJB4.
Pigmentary skin disorders v0.8 GJB3 Rebecca Foulger Source London North GLH was added to GJB3.
Pigmentary skin disorders v0.8 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Pigmentary skin disorders v0.8 GALNT3 Rebecca Foulger Source London North GLH was added to GALNT3.
Pigmentary skin disorders v0.8 FGF23 Rebecca Foulger Source London North GLH was added to FGF23.
Pigmentary skin disorders v0.8 FAM111B Rebecca Foulger Source London North GLH was added to FAM111B.
Pigmentary skin disorders v0.8 ENPP1 Rebecca Foulger Source London North GLH was added to ENPP1.
Pigmentary skin disorders v0.8 EDNRB Rebecca Foulger Source London North GLH was added to EDNRB.
Pigmentary skin disorders v0.8 EDN3 Rebecca Foulger Source London North GLH was added to EDN3.
Pigmentary skin disorders v0.8 DKC1 Rebecca Foulger Source London North GLH was added to DKC1.
Pigmentary skin disorders v0.8 CIB1 Rebecca Foulger Source London North GLH was added to CIB1.
Pigmentary skin disorders v0.8 CDKN2A Rebecca Foulger Source London North GLH was added to CDKN2A.
Pigmentary skin disorders v0.8 CDK4 Rebecca Foulger Source London North GLH was added to CDK4.
Pigmentary skin disorders v0.8 CBL Rebecca Foulger Source London North GLH was added to CBL.
Pigmentary skin disorders v0.8 BRAF Rebecca Foulger Source London North GLH was added to BRAF.
Pigmentary skin disorders v0.8 BAP1 Rebecca Foulger Source London North GLH was added to BAP1.
Pigmentary skin disorders v0.8 ARSE Rebecca Foulger Source London North GLH was added to ARSE.
Pigmentary skin disorders v0.8 AP3B1 Rebecca Foulger Source London North GLH was added to AP3B1.
Pigmentary skin disorders v0.8 ADAR Rebecca Foulger Source London North GLH was added to ADAR.
Pigmentary skin disorders v0.8 ADAM10 Rebecca Foulger Source London North GLH was added to ADAM10.
Pigmentary skin disorders v0.8 ABCD4 Rebecca Foulger Source London North GLH was added to ABCD4.
Pigmentary skin disorders v0.8 ABCB6 Rebecca Foulger Source London North GLH was added to ABCB6.
Rare anaemia v0.27 YARS2 Steve Keeney reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 TSR2 Steve Keeney reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.27 TPI1 Steve Keeney reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512, Enzyme Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 TMPRSS6 Steve Keeney reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Iron-Refractory Iron Deficiency Anemia, Iron refractoryirondeficiencyanemia,206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 TF Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atransferrinemia, 209300, Congenital hypotransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 TCN2 Steve Keeney reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Transcobalamin II deficiency, can have a presentation similar to severe combined immunodeficiency, pancytopenia, neutropenic colitis, Agammaglobulinemia, megaloblastic bone marrow, thrombocytopenia, neutropenia, failure to thrive, hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 SPTB Steve Keeney reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis,616649, Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.27 SPTA1 Steve Keeney reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600, Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140, Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.27 SLC4A1 Steve Keeney reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemolytic Anemia, RBC membrane abnormality, Cryohydrocytosis,185020, Ovalocytosis, SA type, 166900, Spherocytosis, type 4, 612653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 SLC2A1 Steve Keeney reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Pyridoxine-refractory sideroblastic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 SLC25A38 Steve Keeney reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 SLC19A2 Steve Keeney reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 SLC11A2 Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, hypochromic microcytic, with iron overload 1, 206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 SEC23B Steve Keeney reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital dyserythropoietic anemia type II, Congenital Dyserythropoietic Anemia, Anemia, dyserythropoieticcongenital, type II, 224100, ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 SBDS Steve Keeney reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 RPS7 Steve Keeney reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 8, 612563, Diamond_Blackfan Anemia 8, DIAMOND-BLACKFAN ANEMIA 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPS29 Steve Keeney reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 13, 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 RPS27 Steve Keeney reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia, ?Diamond-Blackfan anemia 17, 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 RPS26 Steve Keeney reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 10, 613309, Diamond_Blackfan Anemia 10, Diamond-Blackfan anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPS24 Steve Keeney reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-blackfan anemia 3, 610629, Diamond-Blackfan Anemia 3, DIAMOND-BLACKFAN ANEMIA 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPS19 Steve Keeney reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 1, 105650, Diamond-Blackfan Anemia, DIAMOND-BLACKFAN ANEMIA 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPS17 Steve Keeney reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 4, 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 RPS10 Steve Keeney reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 9, 613308, Diamond-Blackfan Anemia 9, DIAMOND-BLACKFAN ANEMIA 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPL9 Steve Keeney reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 RPL5 Steve Keeney reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 6, 612561, Diamond-Blackfan Anemia 6, DIAMOND-BLACKFAN ANEMIA 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPL35A Steve Keeney reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 5, 612528, Diamond-Blackfan Anemia 5, DIAMOND-BLACKFAN ANEMIA 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RPL15 Steve Keeney reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 12, 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 RPL11 Steve Keeney reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 7, 612562, Diamond-Blackfan Anemia 7, DIAMOND-BLACKFAN ANEMIA 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.27 RHAG Steve Keeney reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000, Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.27 PUS1 Steve Keeney reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 PKLR Steve Keeney reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE KINASE DEFICIENCY, Enzyme Disorder, Pyruvate kinase deficiency, 266200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 PIEZO1 Steve Keeney reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Hereditary xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 PFKM Steve Keeney reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease VII, 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 NT5C3A Steve Keeney reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, hemolytic, due to UMPH1 deficiency, 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 MTRR Steve Keeney reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 MTR Steve Keeney reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 LPIN2 Steve Keeney reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome, 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 KLF1 Steve Keeney reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 KIF23 Steve Keeney reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 KCNN4 Steve Keeney reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 HSPA9 Steve Keeney reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic anaemia type 4, 182170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 HK1 Steve Keeney reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to hexokinase deficiency, 235700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 HBG2 Steve Keeney reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Cyanosis, transient neonatal, 613977, Fetal hemoglobin quantitative trait locus 1,141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Rare anaemia v0.27 HBG1 Steve Keeney reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Fetal hemoglobin quantitative trait locus 1, 141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.27 HBD Steve Keeney reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thalassemia, delta, Thalassemiadue to HbLepore; Mode of inheritance: Unknown; Current diagnostic: yes
Rare anaemia v0.27 HBB Steve Keeney reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749, Erythremias, beta-, Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700, Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749, Methemoglobinemias, beta-, Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903, Thalassemia-beta, dominant inclusion-body, 603902, Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.27 HBA2 Steve Keeney reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythrocytosis, Heinz body anemia,140700, Hemoglobin H disease, nondeletional, 613978, Hypochromic microcytic anemia, Thalassemia, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.27 HBA1 Steve Keeney reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythremias, alpha-, Heinz body anemias, alpha-, 140700, Hemoglobin H disease, nondeletional, 613978, Methemoglobinemias, alpha-, Thalassemias, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.27 GSS Steve Keeney reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 231900, Glutathione synthetase deficiency, 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 GSR Steve Keeney reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
Rare anaemia v0.27 GPI Steve Keeney reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 GLRX5 Steve Keeney reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 GCLC Steve Keeney reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450, Glutamate-cysteine ligase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 GATA1 Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric, Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.27 G6PD Steve Keeney reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908, Enzyme Disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare anaemia v0.27 EPB42 Steve Keeney reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis, type 5, 612690, Hereditary spherocytosis type 5, Minkowski-Chauffard disease, Spherocytosis, Recessive, EPB42-related hereditary spherocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 EPB41 Steve Keeney reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Elliptocytosis-1,611804, Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.27 DHFR Steve Keeney reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 CYB5R3 Steve Keeney reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methaemoglobinaemia type I and II, 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 CUBN Steve Keeney reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, 261100, Megaloblastic Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 COX4I2 Steve Keeney reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 CDAN1 Steve Keeney reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 CD59 Steve Keeney reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: 24382084, 23149847, 1382994; Phenotypes: Dyskeratosis congenita, X-linked, 305000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 C15orf41 Steve Keeney reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib, 615631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 ANK1 Steve Keeney reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Spherocytosis, type 1,182900; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare anaemia v0.27 AMN Steve Keeney reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia-1, Norwegian type, 261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 ALDOA Steve Keeney reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Glycogen storage disease, Glycogen storage disease XII, 611881, Aldolase A deficiency, Glycogen storage disease due to aldolase A deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 ALAS2 Steve Keeney reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 1, 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.27 AK1 Steve Keeney reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211224; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 ABCG8 Steve Keeney reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 ABCG5 Steve Keeney reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.27 ABCB7 Steve Keeney reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic Anemia and Ataxia, Anemia, sideroblastic, with ataxia, 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Multiple monogenic benign skin tumours v0.5 VDR Rebecca Foulger Source London North GLH was added to VDR.
Multiple monogenic benign skin tumours v0.5 SASH1 Rebecca Foulger Source London North GLH was added to SASH1.
Multiple monogenic benign skin tumours v0.5 TSC2 Rebecca Foulger Source London North GLH was added to TSC2.
Multiple monogenic benign skin tumours v0.5 TSC1 Rebecca Foulger Source London North GLH was added to TSC1.
Multiple monogenic benign skin tumours v0.5 TMC8 Rebecca Foulger Source London North GLH was added to TMC8.
Multiple monogenic benign skin tumours v0.5 TMC6 Rebecca Foulger Source London North GLH was added to TMC6.
Multiple monogenic benign skin tumours v0.5 SUFU Rebecca Foulger Source London North GLH was added to SUFU.
Multiple monogenic benign skin tumours v0.5 STK11 Rebecca Foulger Source London North GLH was added to STK11.
Multiple monogenic benign skin tumours v0.5 SAMD9 Rebecca Foulger Source London North GLH was added to SAMD9.
Multiple monogenic benign skin tumours v0.5 PTEN Rebecca Foulger Source London North GLH was added to PTEN.
Multiple monogenic benign skin tumours v0.5 PTCH2 Rebecca Foulger Source London North GLH was added to PTCH2.
Multiple monogenic benign skin tumours v0.5 PTCH1 Rebecca Foulger Source London North GLH was added to PTCH1.
Multiple monogenic benign skin tumours v0.5 PRKAR1A Rebecca Foulger Source London North GLH was added to PRKAR1A.
Multiple monogenic benign skin tumours v0.5 PORCN Rebecca Foulger Source London North GLH was added to PORCN.
Multiple monogenic benign skin tumours v0.5 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Multiple monogenic benign skin tumours v0.5 PDGFRB Rebecca Foulger Source London North GLH was added to PDGFRB.
Multiple monogenic benign skin tumours v0.5 NRAS Rebecca Foulger Source London North GLH was added to NRAS.
Multiple monogenic benign skin tumours v0.5 NF1 Rebecca Foulger Source London North GLH was added to NF1.
Multiple monogenic benign skin tumours v0.5 MC1R Rebecca Foulger Source London North GLH was added to MC1R.
Multiple monogenic benign skin tumours v0.5 LEMD3 Rebecca Foulger Source London North GLH was added to LEMD3.
Multiple monogenic benign skin tumours v0.5 LEF1 Rebecca Foulger Source London North GLH was added to LEF1.
Multiple monogenic benign skin tumours v0.5 KRT17 Rebecca Foulger Source London North GLH was added to KRT17.
Multiple monogenic benign skin tumours v0.5 KRAS Rebecca Foulger Source London North GLH was added to KRAS.
Multiple monogenic benign skin tumours v0.5 JAK2 Rebecca Foulger Source London North GLH was added to JAK2.
Multiple monogenic benign skin tumours v0.5 IRF4 Rebecca Foulger Source London North GLH was added to IRF4.
Multiple monogenic benign skin tumours v0.5 HRAS Rebecca Foulger Source London North GLH was added to HRAS.
Multiple monogenic benign skin tumours v0.5 GLA Rebecca Foulger Source London North GLH was added to GLA.
Multiple monogenic benign skin tumours v0.5 GALNT3 Rebecca Foulger Source London North GLH was added to GALNT3.
Multiple monogenic benign skin tumours v0.5 FLCN Rebecca Foulger Source London North GLH was added to FLCN.
Multiple monogenic benign skin tumours v0.5 FGFR3 Rebecca Foulger Source London North GLH was added to FGFR3.
Multiple monogenic benign skin tumours v0.5 FGFR2 Rebecca Foulger Source London North GLH was added to FGFR2.
Multiple monogenic benign skin tumours v0.5 FGF23 Rebecca Foulger Source London North GLH was added to FGF23.
Multiple monogenic benign skin tumours v0.5 CYLD Rebecca Foulger Source London North GLH was added to CYLD.
Multiple monogenic benign skin tumours v0.5 CTNNB1 Rebecca Foulger Source London North GLH was added to CTNNB1.
Multiple monogenic benign skin tumours v0.5 CIB1 Rebecca Foulger Source London North GLH was added to CIB1.
Multiple monogenic benign skin tumours v0.5 CDKN2A Rebecca Foulger Source London North GLH was added to CDKN2A.
Multiple monogenic benign skin tumours v0.5 CDK4 Rebecca Foulger Source London North GLH was added to CDK4.
Multiple monogenic benign skin tumours v0.5 BRAF Rebecca Foulger Source London North GLH was added to BRAF.
Multiple monogenic benign skin tumours v0.5 APC Rebecca Foulger Source London North GLH was added to APC.
Multiple monogenic benign skin tumours v0.5 ACTRT1 Rebecca Foulger Source London North GLH was added to ACTRT1.
Autosomal recessive primary hypertrophic osteoarthropathy v0.7 SLCO2A1 Rebecca Foulger Source London North GLH was added to SLCO2A1.
Autosomal recessive primary hypertrophic osteoarthropathy v0.7 HPGD Rebecca Foulger Source London North GLH was added to HPGD.
Rare anaemia v0.26 YARS2 Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Rare anaemia v0.26 TSR2 Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2
Rare anaemia v0.26 TPI1 Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1
Rare anaemia v0.26 TMPRSS6 Louise Daugherty Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia for gene: TMPRSS6
Rare anaemia v0.26 TF Louise Daugherty Added phenotypes Atransferrinemia, 209300; Congenital hypotransferrinemia for gene: TF
Rare anaemia v0.26 TCN2 Louise Daugherty Added phenotypes megaloblastic bone marrow; failure to thrive; pancytopenia; neutropenic colitis; thrombocytopenia; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia for gene: TCN2
Rare anaemia v0.26 SPTB Louise Daugherty Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB
Rare anaemia v0.26 SPTA1 Louise Daugherty Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1
Rare anaemia v0.26 SLC4A1 Louise Daugherty Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1
Rare anaemia v0.26 SLC2A1 Louise Daugherty Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1
Rare anaemia v0.26 SLC25A38 Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
Rare anaemia v0.26 SLC19A2 Louise Daugherty Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2
Rare anaemia v0.26 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Rare anaemia v0.26 SEC23B Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100 for gene: SEC23B
Rare anaemia v0.26 SBDS Louise Daugherty Added phenotypes Shwachman-Diamond syndrome for gene: SBDS
Rare anaemia v0.26 RPS7 Louise Daugherty Added phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7
Rare anaemia v0.26 RPS29 Louise Daugherty Added phenotypes Diamond-Blackfan anemia 13, 615909 for gene: RPS29
Rare anaemia v0.26 RPS27 Louise Daugherty Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
Rare anaemia v0.26 RPS26 Louise Daugherty Added phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26
Rare anaemia v0.26 RPS24 Louise Daugherty Added phenotypes Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia 3; Diamond Blackfan anemia for gene: RPS24
Rare anaemia v0.26 RPS19 Louise Daugherty Added phenotypes Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia for gene: RPS19
Rare anaemia v0.26 RPS17 Louise Daugherty Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
Rare anaemia v0.26 RPS10 Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10
Rare anaemia v0.26 RPL9 Louise Daugherty Added phenotypes Diamond-Blackfan anemia for gene: RPL9
Rare anaemia v0.26 RPL5 Louise Daugherty Added phenotypes Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5
Rare anaemia v0.26 RPL35A Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 5; Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL35A
Rare anaemia v0.26 RPL15 Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15
Rare anaemia v0.26 RPL11 Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11
Rare anaemia v0.26 RHAG Louise Daugherty Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG
Rare anaemia v0.26 PUS1 Louise Daugherty Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1
Rare anaemia v0.26 PKLR Louise Daugherty Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR
Rare anaemia v0.26 PIEZO1 Louise Daugherty Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1
Rare anaemia v0.26 PFKM Louise Daugherty Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
Rare anaemia v0.26 NT5C3A Louise Daugherty Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 for gene: NT5C3A
Rare anaemia v0.26 MTRR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
Rare anaemia v0.26 MTR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
Rare anaemia v0.26 LPIN2 Louise Daugherty Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
Rare anaemia v0.26 KLF1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
Rare anaemia v0.26 KIF23 Louise Daugherty Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
Rare anaemia v0.26 KCNN4 Louise Daugherty Added phenotypes Hereditary Xerocytosis for gene: KCNN4
Rare anaemia v0.26 HSPA9 Louise Daugherty Added phenotypes Sideroblastic anaemia type 4, 182170 for gene: HSPA9
Rare anaemia v0.26 HK1 Louise Daugherty Added phenotypes Hemolytic anemia due to hexokinase deficiency, 235700; Enzyme Disorder for gene: HK1
Rare anaemia v0.26 HBG2 Louise Daugherty Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2
Rare anaemia v0.26 HBG1 Louise Daugherty Added phenotypes Fetal hemoglobin quantitative trait locus 1, 141749; Globin Disorder for gene: HBG1
Rare anaemia v0.26 HBD Louise Daugherty Added phenotypes Thalassemiadue to HbLepore; Thalassemia, delta for gene: HBD
Rare anaemia v0.26 HBB Louise Daugherty Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749 for gene: HBB
Rare anaemia v0.26 HBA2 Louise Daugherty Added phenotypes Hypochromic microcytic anemia; Heinz body anemia,140700; Globin Disorder; Erythrocytosis; Thalassemia, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978 for gene: HBA2
Rare anaemia v0.26 HBA1 Louise Daugherty Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1
Rare anaemia v0.26 GSS Louise Daugherty Added phenotypes Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS
Rare anaemia v0.26 GSR Louise Daugherty Added phenotypes NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency for gene: GSR
Rare anaemia v0.26 GPI Louise Daugherty Added phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI
Rare anaemia v0.26 GLRX5 Louise Daugherty Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5
Rare anaemia v0.26 GCLC Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC
Rare anaemia v0.26 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
Rare anaemia v0.26 G6PD Louise Daugherty Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD
Rare anaemia v0.26 EPB42 Louise Daugherty Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42
Rare anaemia v0.26 EPB41 Louise Daugherty Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41
Rare anaemia v0.26 DHFR Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
Rare anaemia v0.26 CYB5R3 Louise Daugherty Added phenotypes Methaemoglobinaemia type I and II, 250800 for gene: CYB5R3
Rare anaemia v0.26 CUBN Louise Daugherty Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia for gene: CUBN
Rare anaemia v0.26 COX4I2 Louise Daugherty Added phenotypes Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 for gene: COX4I2
Rare anaemia v0.26 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Rare anaemia v0.26 CD59 Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: CD59
Publications for gene CD59 were changed from to 1382994; 23149847; 24382084
Rare anaemia v0.26 C15orf41 Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Rare anaemia v0.26 ANK1 Louise Daugherty Added phenotypes RBC membrane abnormality; Spherocytosis, type 1,182900 for gene: ANK1
Rare anaemia v0.26 AMN Louise Daugherty Added phenotypes Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
Rare anaemia v0.26 ALDOA Louise Daugherty Added phenotypes Aldolase A deficiency; Glycogen storage disease XII, 611881; Glycogen storage disease; Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder for gene: ALDOA
Rare anaemia v0.26 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751 for gene: ALAS2
Rare anaemia v0.26 AK1 Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Publications for gene AK1 were changed from 10233365; 9432020; 12649162 to 28211224
Rare anaemia v0.26 ABCG8 Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG8
Rare anaemia v0.26 ABCG5 Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG5
Rare anaemia v0.26 ABCB7 Louise Daugherty Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
Palmoplantar keratodermas v0.5 SASH1 Rebecca Foulger Source London North GLH was added to SASH1.
Palmoplantar keratodermas v0.5 PKP2 Rebecca Foulger Source London North GLH was added to PKP2.
Palmoplantar keratodermas v0.5 PERP Rebecca Foulger Source London North GLH was added to PERP.
Palmoplantar keratodermas v0.5 FAM83G Rebecca Foulger Source London North GLH was added to FAM83G.
Palmoplantar keratodermas v0.5 DSG2 Rebecca Foulger Source London North GLH was added to DSG2.
Palmoplantar keratodermas v0.5 DSC1 Rebecca Foulger Source London North GLH was added to DSC1.
Palmoplantar keratodermas v0.5 VPS33B Rebecca Foulger Source London North GLH was added to VPS33B.
Palmoplantar keratodermas v0.5 TRPV3 Rebecca Foulger Source London North GLH was added to TRPV3.
Palmoplantar keratodermas v0.5 TGM1 Rebecca Foulger Source London North GLH was added to TGM1.
Palmoplantar keratodermas v0.5 SULT2B1 Rebecca Foulger Source London North GLH was added to SULT2B1.
Palmoplantar keratodermas v0.5 STS Rebecca Foulger Source London North GLH was added to STS.
Palmoplantar keratodermas v0.5 ST14 Rebecca Foulger Source London North GLH was added to ST14.
Palmoplantar keratodermas v0.5 SPINK5 Rebecca Foulger Source London North GLH was added to SPINK5.
Palmoplantar keratodermas v0.5 SNAP29 Rebecca Foulger Source London North GLH was added to SNAP29.
Palmoplantar keratodermas v0.5 SLURP1 Rebecca Foulger Source London North GLH was added to SLURP1.
Palmoplantar keratodermas v0.5 SLC27A4 Rebecca Foulger Source London North GLH was added to SLC27A4.
Palmoplantar keratodermas v0.5 SERPINB7 Rebecca Foulger Source London North GLH was added to SERPINB7.
Palmoplantar keratodermas v0.5 SDR9C7 Rebecca Foulger Source London North GLH was added to SDR9C7.
Palmoplantar keratodermas v0.5 RSPO1 Rebecca Foulger Source London North GLH was added to RSPO1.
Palmoplantar keratodermas v0.5 RHBDF2 Rebecca Foulger Source London North GLH was added to RHBDF2.
Palmoplantar keratodermas v0.5 POMP Rebecca Foulger Source London North GLH was added to POMP.
Palmoplantar keratodermas v0.5 PNPLA1 Rebecca Foulger Source London North GLH was added to PNPLA1.
Palmoplantar keratodermas v0.5 PKP1 Rebecca Foulger Source London North GLH was added to PKP1.
Palmoplantar keratodermas v0.5 PHYH Rebecca Foulger Source London North GLH was added to PHYH.
Palmoplantar keratodermas v0.5 PEX7 Rebecca Foulger Source London North GLH was added to PEX7.
Palmoplantar keratodermas v0.5 NSDHL Rebecca Foulger Source London North GLH was added to NSDHL.
Palmoplantar keratodermas v0.5 NIPAL4 Rebecca Foulger Source London North GLH was added to NIPAL4.
Palmoplantar keratodermas v0.5 MVK Rebecca Foulger Source London North GLH was added to MVK.
Palmoplantar keratodermas v0.5 MBTPS2 Rebecca Foulger Source London North GLH was added to MBTPS2.
Palmoplantar keratodermas v0.5 LOR Rebecca Foulger Source London North GLH was added to LOR.
Palmoplantar keratodermas v0.5 LIPN Rebecca Foulger Source London North GLH was added to LIPN.
Palmoplantar keratodermas v0.5 KRT9 Rebecca Foulger Source London North GLH was added to KRT9.
Palmoplantar keratodermas v0.5 KRT6C Rebecca Foulger Source London North GLH was added to KRT6C.
Palmoplantar keratodermas v0.5 KRT2 Rebecca Foulger Source London North GLH was added to KRT2.
Palmoplantar keratodermas v0.5 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Palmoplantar keratodermas v0.5 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Palmoplantar keratodermas v0.5 KDSR Rebecca Foulger Source London North GLH was added to KDSR.
Palmoplantar keratodermas v0.5 KANK2 Rebecca Foulger Source London North GLH was added to KANK2.
Palmoplantar keratodermas v0.5 JUP Rebecca Foulger Source London North GLH was added to JUP.
Palmoplantar keratodermas v0.5 GJB2 Rebecca Foulger Source London North GLH was added to GJB2.
Palmoplantar keratodermas v0.5 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Palmoplantar keratodermas v0.5 FLG Rebecca Foulger Source London North GLH was added to FLG.
Palmoplantar keratodermas v0.5 ENPP1 Rebecca Foulger Source London North GLH was added to ENPP1.
Palmoplantar keratodermas v0.5 ELOVL4 Rebecca Foulger Source London North GLH was added to ELOVL4.
Palmoplantar keratodermas v0.5 EBP Rebecca Foulger Source London North GLH was added to EBP.
Palmoplantar keratodermas v0.5 DSP Rebecca Foulger Source London North GLH was added to DSP.
Palmoplantar keratodermas v0.5 DSG4 Rebecca Foulger Source London North GLH was added to DSG4.
Palmoplantar keratodermas v0.5 DSG1 Rebecca Foulger Source London North GLH was added to DSG1.
Palmoplantar keratodermas v0.5 DSC3 Rebecca Foulger Source London North GLH was added to DSC3.
Palmoplantar keratodermas v0.5 DSC2 Rebecca Foulger Source London North GLH was added to DSC2.
Palmoplantar keratodermas v0.5 CYP4F22 Rebecca Foulger Source London North GLH was added to CYP4F22.
Palmoplantar keratodermas v0.5 CTSC Rebecca Foulger Source London North GLH was added to CTSC.
Palmoplantar keratodermas v0.5 CSTA Rebecca Foulger Source London North GLH was added to CSTA.
Palmoplantar keratodermas v0.5 CLDN1 Rebecca Foulger Source London North GLH was added to CLDN1.
Palmoplantar keratodermas v0.5 CERS3 Rebecca Foulger Source London North GLH was added to CERS3.
Palmoplantar keratodermas v0.5 CDSN Rebecca Foulger Source London North GLH was added to CDSN.
Palmoplantar keratodermas v0.5 CAST Rebecca Foulger Source London North GLH was added to CAST.
Palmoplantar keratodermas v0.5 CASP14 Rebecca Foulger Source London North GLH was added to CASP14.
Palmoplantar keratodermas v0.5 ARSE Rebecca Foulger Source London North GLH was added to ARSE.
Palmoplantar keratodermas v0.5 AQP5 Rebecca Foulger Source London North GLH was added to AQP5.
Palmoplantar keratodermas v0.5 AP1S1 Rebecca Foulger Source London North GLH was added to AP1S1.
Palmoplantar keratodermas v0.5 ALOXE3 Rebecca Foulger Source London North GLH was added to ALOXE3.
Palmoplantar keratodermas v0.5 ALOX12B Rebecca Foulger Source London North GLH was added to ALOX12B.
Palmoplantar keratodermas v0.5 ALDH3A2 Rebecca Foulger Source London North GLH was added to ALDH3A2.
Palmoplantar keratodermas v0.5 ADAM17 Rebecca Foulger Source London North GLH was added to ADAM17.
Palmoplantar keratodermas v0.5 ABHD5 Rebecca Foulger Source London North GLH was added to ABHD5.
Palmoplantar keratodermas v0.5 ABCA12 Rebecca Foulger Source London North GLH was added to ABCA12.
Palmoplantar keratodermas v0.5 AAGAB Rebecca Foulger Source London North GLH was added to AAGAB.
Rare anaemia v0.25 NHP2 Louise Daugherty Mode of inheritance for gene: NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.24 NHP2 Louise Daugherty Classified gene: NHP2 as Amber List (moderate evidence)
Rare anaemia v0.24 NHP2 Louise Daugherty Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Rare anaemia v0.22 YARS2 Louise Daugherty Source North West GLH was added to YARS2.
Rare anaemia v0.22 TSR2 Louise Daugherty Source North West GLH was added to TSR2.
Rare anaemia v0.22 TPI1 Louise Daugherty Source North West GLH was added to TPI1.
Rare anaemia v0.22 TMPRSS6 Louise Daugherty Source North West GLH was added to TMPRSS6.
Rare anaemia v0.22 TF Louise Daugherty Source North West GLH was added to TF.
Rare anaemia v0.22 TCN2 Louise Daugherty Source North West GLH was added to TCN2.
Rare anaemia v0.22 SPTB Louise Daugherty Source North West GLH was added to SPTB.
Rare anaemia v0.22 SPTA1 Louise Daugherty Source North West GLH was added to SPTA1.
Rare anaemia v0.22 SLC4A1 Louise Daugherty Source North West GLH was added to SLC4A1.
Rare anaemia v0.22 SLC2A1 Louise Daugherty Source North West GLH was added to SLC2A1.
Rare anaemia v0.22 SLC25A38 Louise Daugherty Source North West GLH was added to SLC25A38.
Rare anaemia v0.22 SLC19A2 Louise Daugherty Source North West GLH was added to SLC19A2.
Rare anaemia v0.22 SLC11A2 Louise Daugherty Source North West GLH was added to SLC11A2.
Rare anaemia v0.22 SEC23B Louise Daugherty Source North West GLH was added to SEC23B.
Rare anaemia v0.22 SBDS Louise Daugherty Source North West GLH was added to SBDS.
Rare anaemia v0.22 RPS7 Louise Daugherty Source North West GLH was added to RPS7.
Rare anaemia v0.22 RPS29 Louise Daugherty Source North West GLH was added to RPS29.
Rare anaemia v0.22 RPS27 Louise Daugherty Source North West GLH was added to RPS27.
Rare anaemia v0.22 RPS26 Louise Daugherty Source North West GLH was added to RPS26.
Rare anaemia v0.22 RPS24 Louise Daugherty Source North West GLH was added to RPS24.
Rare anaemia v0.22 RPS19 Louise Daugherty Source North West GLH was added to RPS19.
Rare anaemia v0.22 RPS17 Louise Daugherty Source North West GLH was added to RPS17.
Rare anaemia v0.22 RPS10 Louise Daugherty Source North West GLH was added to RPS10.
Rare anaemia v0.22 RPL9 Louise Daugherty Source North West GLH was added to RPL9.
Rare anaemia v0.22 RPL5 Louise Daugherty Source North West GLH was added to RPL5.
Rare anaemia v0.22 RPL35A Louise Daugherty Source North West GLH was added to RPL35A.
Rare anaemia v0.22 RPL15 Louise Daugherty Source North West GLH was added to RPL15.
Rare anaemia v0.22 RPL11 Louise Daugherty Source North West GLH was added to RPL11.
Rare anaemia v0.22 RHAG Louise Daugherty Source North West GLH was added to RHAG.
Rare anaemia v0.22 PUS1 Louise Daugherty Source North West GLH was added to PUS1.
Rare anaemia v0.22 PKLR Louise Daugherty Source North West GLH was added to PKLR.
Rare anaemia v0.22 PIEZO1 Louise Daugherty Source North West GLH was added to PIEZO1.
Rare anaemia v0.22 PFKM Louise Daugherty Source North West GLH was added to PFKM.
Rare anaemia v0.22 NT5C3A Louise Daugherty Source North West GLH was added to NT5C3A.
Rare anaemia v0.22 MTRR Louise Daugherty Source North West GLH was added to MTRR.
Rare anaemia v0.22 MTR Louise Daugherty Source North West GLH was added to MTR.
Rare anaemia v0.22 LPIN2 Louise Daugherty Source North West GLH was added to LPIN2.
Rare anaemia v0.22 KLF1 Louise Daugherty Source North West GLH was added to KLF1.
Rare anaemia v0.22 KIF23 Louise Daugherty Source North West GLH was added to KIF23.
Rare anaemia v0.22 KCNN4 Louise Daugherty Source North West GLH was added to KCNN4.
Rare anaemia v0.22 HSPA9 Louise Daugherty Source North West GLH was added to HSPA9.
Rare anaemia v0.22 HK1 Louise Daugherty Source North West GLH was added to HK1.
Rare anaemia v0.22 HBG2 Louise Daugherty Source North West GLH was added to HBG2.
Rare anaemia v0.22 HBG1 Louise Daugherty Source North West GLH was added to HBG1.
Rare anaemia v0.22 HBD Louise Daugherty Source North West GLH was added to HBD.
Rare anaemia v0.22 HBB Louise Daugherty Source North West GLH was added to HBB.
Rare anaemia v0.22 HBA2 Louise Daugherty Source North West GLH was added to HBA2.
Rare anaemia v0.22 HBA1 Louise Daugherty Source North West GLH was added to HBA1.
Rare anaemia v0.22 GSS Louise Daugherty Source North West GLH was added to GSS.
Rare anaemia v0.22 GSR Louise Daugherty Source North West GLH was added to GSR.
Rare anaemia v0.22 GPI Louise Daugherty Source North West GLH was added to GPI.
Rare anaemia v0.22 GLRX5 Louise Daugherty Source North West GLH was added to GLRX5.
Rare anaemia v0.22 GCLC Louise Daugherty Source North West GLH was added to GCLC.
Rare anaemia v0.22 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Rare anaemia v0.22 G6PD Louise Daugherty Source North West GLH was added to G6PD.
Rare anaemia v0.22 EPB42 Louise Daugherty Source North West GLH was added to EPB42.
Rare anaemia v0.22 EPB41 Louise Daugherty Source North West GLH was added to EPB41.
Rare anaemia v0.22 DHFR Louise Daugherty Source North West GLH was added to DHFR.
Rare anaemia v0.22 CYB5R3 Louise Daugherty Source North West GLH was added to CYB5R3.
Rare anaemia v0.22 CUBN Louise Daugherty Source North West GLH was added to CUBN.
Rare anaemia v0.22 COX4I2 Louise Daugherty Source North West GLH was added to COX4I2.
Rare anaemia v0.22 CDAN1 Louise Daugherty Source North West GLH was added to CDAN1.
Rare anaemia v0.22 CD59 Louise Daugherty Source North West GLH was added to CD59.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Rare anaemia v0.22 C15orf41 Louise Daugherty Source North West GLH was added to C15orf41.
Rare anaemia v0.22 ANK1 Louise Daugherty Source North West GLH was added to ANK1.
Rare anaemia v0.22 AMN Louise Daugherty Source North West GLH was added to AMN.
Rare anaemia v0.22 ALDOA Louise Daugherty Source North West GLH was added to ALDOA.
Rare anaemia v0.22 ALAS2 Louise Daugherty Source North West GLH was added to ALAS2.
Rare anaemia v0.22 AK1 Louise Daugherty Source North West GLH was added to AK1.
Rare anaemia v0.22 ABCG8 Louise Daugherty Source North West GLH was added to ABCG8.
Rare anaemia v0.22 ABCG5 Louise Daugherty Source North West GLH was added to ABCG5.
Rare anaemia v0.22 ABCB7 Louise Daugherty Source North West GLH was added to ABCB7.
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TP53 Louise Daugherty commented on gene: TP53: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TERT Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187270 / 601626 {Leukemia, acute myeloid}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TERC Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 127550 / 614743 {Aplastic anemia}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 SRP72 Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 602122 Bone marrow failure syndrome 1; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 GATA2 Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 DDX41 Louise Daugherty commented on gene: DDX41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CHEK2 Louise Daugherty commented on gene: CHEK2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CHEK2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CEBPA Louise Daugherty commented on gene: CEBPA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610855; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 TP53 Steve Keeney reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 TERT Steve Keeney reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187270 / 601626 {Leukemia, acute myeloid}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 TERC Steve Keeney reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 127550 / 614743 {Aplastic anemia}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 SRP72 Steve Keeney reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602122 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 RUNX1 Steve Keeney reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 GATA2 Steve Keeney reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 ETV6 Steve Keeney reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 DDX41 Steve Keeney reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 CHEK2 Steve Keeney reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 CEBPA Steve Keeney reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.15 ANKRD26 Steve Keeney reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 TP53 Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 TERT Louise Daugherty Added phenotypes 187270 / 601626 {Leukemia, acute myeloid} for gene: TERT
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 TERC Louise Daugherty Added phenotypes 127550 / 614743 {Aplastic anemia} for gene: TERC
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 SRP72 Louise Daugherty Added phenotypes 602122 Bone marrow failure syndrome 1 for gene: SRP72
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 RUNX1 Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 GATA2 Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 ETV6 Louise Daugherty Added phenotypes 600618 / 601626 Leukemia, acute myeloid, somatic for gene: ETV6
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 DDX41 Louise Daugherty Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 CHEK2 Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 CEBPA Louise Daugherty Added phenotypes 116897 / 601626 Leukemia, acute myeloid, somatic for gene: CEBPA
Inherited predisposition to acute myeloid leukaemia (AML) v0.14 ANKRD26 Louise Daugherty Added phenotypes 610855 for gene: ANKRD26
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 TP53 Louise Daugherty Source North West GLH was added to TP53.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 TERT Louise Daugherty Source North West GLH was added to TERT.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 TERC Louise Daugherty Source North West GLH was added to TERC.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 SRP72 Louise Daugherty Source North West GLH was added to SRP72.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 RUNX1 Louise Daugherty Source North West GLH was added to RUNX1.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 GATA2 Louise Daugherty Source North West GLH was added to GATA2.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 ETV6 Louise Daugherty Source North West GLH was added to ETV6.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 DDX41 Louise Daugherty Source North West GLH was added to DDX41.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 CHEK2 Louise Daugherty Source North West GLH was added to CHEK2.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 CEBPA Louise Daugherty Source North West GLH was added to CEBPA.
Inherited predisposition to acute myeloid leukaemia (AML) v0.12 ANKRD26 Louise Daugherty Source North West GLH was added to ANKRD26.
Intellectual disability v2.669 MAST1 Ivone Leong Phenotypes for gene: MAST1 were changed from Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273
Thrombophilia with a likely monogenic cause v0.34 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 SERPIND1 Louise Daugherty commented on gene: SERPIND1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPIND1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 SERPINC1 Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PROS1 Louise Daugherty commented on gene: PROS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PROCR Louise Daugherty commented on gene: PROCR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROCR; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: none submitted; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PROC Louise Daugherty commented on gene: PROC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PLG Louise Daugherty commented on gene: PLG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 217090 Plasminogen deficiency, type I; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PLAT Louise Daugherty commented on gene: PLAT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612348 Thrombophilia, due to decreased release of PLAT; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 PIGA Louise Daugherty commented on gene: PIGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300818 Paroxysmal nocturnal hemoglobinuria, somatic; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 HRG Louise Daugherty commented on gene: HRG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HRG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.34 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Intellectual disability v2.668 MAPK8IP3 Ivone Leong Classified gene: MAPK8IP3 as Green List (high evidence)
Intellectual disability v2.668 MAPK8IP3 Ivone Leong Added comment: Comment on list classification: MAPK8IP3 has been given a green gene rating based on the evidence provided by the expert review. This gene is not associated with any phenotype on OMIM or Gene2Phenotype.
Intellectual disability v2.668 MAPK8IP3 Ivone Leong Gene: mapk8ip3 has been classified as Green List (High Evidence).
Thrombophilia with a likely monogenic cause v0.33 THBD Steve Keeney reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thrombophilia with a likely monogenic cause v0.33 SERPINE1 Steve Keeney reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 SERPIND1 Steve Keeney reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.33 SERPINC1 Steve Keeney reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 PROS1 Steve Keeney reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 PROCR Steve Keeney reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 PROC Steve Keeney reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 PLG Steve Keeney reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 217090 Plasminogen deficiency, type I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 PLAT Steve Keeney reviewed gene: PLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612348 Thrombophilia, due to decreased release of PLAT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 PIGA Steve Keeney reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300818 Paroxysmal nocturnal hemoglobinuria, somatic; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thrombophilia with a likely monogenic cause v0.33 HRG Steve Keeney reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613116 Thrombophilia due to HRG deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.33 FGG Steve Keeney reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 FGB Steve Keeney reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 FGA Steve Keeney reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.33 F5 Steve Keeney reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.33 F2 Steve Keeney reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.33 ADAMTS13 Steve Keeney reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.32 THBD Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Thrombophilia with a likely monogenic cause v0.32 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Thrombophilia with a likely monogenic cause v0.32 SERPIND1 Louise Daugherty Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1
Thrombophilia with a likely monogenic cause v0.32 SERPINC1 Louise Daugherty Added phenotypes 613118 Thrombophilia due to antithrombin III deficiency for gene: SERPINC1
Thrombophilia with a likely monogenic cause v0.32 PROS1 Louise Daugherty Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Thrombophilia with a likely monogenic cause v0.32 PROC Louise Daugherty Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Thrombophilia with a likely monogenic cause v0.32 PLG Louise Daugherty Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG
Thrombophilia with a likely monogenic cause v0.32 PLAT Louise Daugherty Added phenotypes 612348 Thrombophilia, due to decreased release of PLAT for gene: PLAT
Thrombophilia with a likely monogenic cause v0.32 PIGA Louise Daugherty Added phenotypes 300818 Paroxysmal nocturnal hemoglobinuria, somatic for gene: PIGA
Thrombophilia with a likely monogenic cause v0.32 HRG Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Thrombophilia with a likely monogenic cause v0.32 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Thrombophilia with a likely monogenic cause v0.32 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB
Thrombophilia with a likely monogenic cause v0.32 FGA Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Thrombophilia with a likely monogenic cause v0.32 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Thrombophilia with a likely monogenic cause v0.32 F2 Louise Daugherty Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2
Thrombophilia with a likely monogenic cause v0.32 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Intellectual disability v2.667 MAPK8IP3 Ivone Leong Phenotypes for gene: MAPK8IP3 were changed from 25363768; 28213671; 28135719 to Abnormal muscle tone; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; No OMIM number
Intellectual disability v2.666 MAPK8IP3 Ivone Leong Publications for gene: MAPK8IP3 were set to
Intellectual disability v2.665 MAP1B Ivone Leong Classified gene: MAP1B as Amber List (moderate evidence)
Intellectual disability v2.665 MAP1B Ivone Leong Added comment: Comment on list classification: MAP1B has been given an amber gene rating based on the evidence provided by the expert review. It is not associated with any phenotype on OMIM or Gene2Phenotype.
Intellectual disability v2.665 MAP1B Ivone Leong Gene: map1b has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.664 MAP1B Ivone Leong Phenotypes for gene: MAP1B were changed from Intellectual disability to Intellectual disability; No OMIM number
Thrombophilia with a likely monogenic cause v0.30 THBD Louise Daugherty Source North West GLH was added to THBD.
Thrombophilia with a likely monogenic cause v0.30 SERPINE1 Louise Daugherty Source North West GLH was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.30 SERPIND1 Louise Daugherty Source North West GLH was added to SERPIND1.
Thrombophilia with a likely monogenic cause v0.30 SERPINC1 Louise Daugherty Source North West GLH was added to SERPINC1.
Thrombophilia with a likely monogenic cause v0.30 PROS1 Louise Daugherty Source North West GLH was added to PROS1.
Thrombophilia with a likely monogenic cause v0.30 PROCR Louise Daugherty Source North West GLH was added to PROCR.
Thrombophilia with a likely monogenic cause v0.30 PROC Louise Daugherty Source North West GLH was added to PROC.
Thrombophilia with a likely monogenic cause v0.30 PLG Louise Daugherty Source North West GLH was added to PLG.
Thrombophilia with a likely monogenic cause v0.30 PLAT Louise Daugherty Source North West GLH was added to PLAT.
Thrombophilia with a likely monogenic cause v0.30 PIGA Louise Daugherty Source North West GLH was added to PIGA.
Thrombophilia with a likely monogenic cause v0.30 HRG Louise Daugherty Source North West GLH was added to HRG.
Thrombophilia with a likely monogenic cause v0.30 FGG Louise Daugherty Source North West GLH was added to FGG.
Thrombophilia with a likely monogenic cause v0.30 FGB Louise Daugherty Source North West GLH was added to FGB.
Thrombophilia with a likely monogenic cause v0.30 FGA Louise Daugherty Source North West GLH was added to FGA.
Thrombophilia with a likely monogenic cause v0.30 F5 Louise Daugherty Source North West GLH was added to F5.
Thrombophilia with a likely monogenic cause v0.30 F2 Louise Daugherty Source North West GLH was added to F2.
Thrombophilia with a likely monogenic cause v0.30 ADAMTS13 Louise Daugherty Source North West GLH was added to ADAMTS13.
Intellectual disability v2.663 MACF1 Ivone Leong Classified gene: MACF1 as Green List (high evidence)
Intellectual disability v2.663 MACF1 Ivone Leong Added comment: Comment on list classification: MACF1 has been given a green gene rating based on the evidence provided by the expert review. The gene is associated with a phenotype on OMIM but not on Gene2Phenotype.
Intellectual disability v2.663 MACF1 Ivone Leong Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability v2.662 MACF1 Ivone Leong Publications for gene: MACF1 were set to 30471716
Iron metabolism disorders - NOT common HFE mutations v0.25 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200.IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 TFR2 Louise Daugherty commented on gene: TFR2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TFR2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604250.HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 SLC40A1 Louise Daugherty commented on gene: SLC40A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC40A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606069.HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia (OMIM entry 600523); PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 SERPINC1 Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HFE2 Louise Daugherty commented on gene: HFE2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HJV; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 602390.HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HFE Louise Daugherty commented on gene: HFE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HFE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235200.HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HEPH Louise Daugherty commented on gene: HEPH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Not submitted; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HAMP Louise Daugherty commented on gene: HAMP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAMP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613313.HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 FTL Louise Daugherty commented on gene: FTL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 600886.HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC, 606159. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 , 615604. L-FERRITIN DEFICIENCY; LFTD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 FTH1 Louise Daugherty commented on gene: FTH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTH1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 FECH Louise Daugherty commented on gene: FECH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FECH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 177000.PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 CYBRD1 Louise Daugherty commented on gene: CYBRD1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYBRD1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: NA IRON OVERLOAD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 CP Louise Daugherty commented on gene: CP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604290.ACERULOPLASMINEMIA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 BMP6 Louise Daugherty commented on gene: BMP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BMP6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: NA IRON OVERLOAD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 ATP7B Louise Daugherty commented on gene: ATP7B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ATP7B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277900.WILSON DISEASE; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 ACVR1 Louise Daugherty commented on gene: ACVR1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVR1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.24 TMPRSS6 Steve Keeney reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA, IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 TFR2 Steve Keeney reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3, HFE3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 TF Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 SLC40A1 Steve Keeney reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4, HFE4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 SLC11A2 Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, AHMIO1 DMT1-related anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 SERPINC1 Steve Keeney reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY, A1ATD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 HFE2 Steve Keeney reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A, HFE2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 HFE Steve Keeney reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.24 HEPH Steve Keeney reviewed gene: HEPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Iron metabolism disorders - NOT common HFE mutations v0.24 HAMP Steve Keeney reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B, HFE2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 GBA Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 FTL Steve Keeney reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, HRFTC, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 FTH1 Steve Keeney reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 FECH Steve Keeney reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1, EPP1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 CYBRD1 Steve Keeney reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 CP Steve Keeney reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604290 ACERULOPLASMINEMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 BMP6 Steve Keeney reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 ATP7B Steve Keeney reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277900 WILSON DISEASE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 ACVR1 Steve Keeney reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.23 TMPRSS6 Louise Daugherty Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Iron metabolism disorders - NOT common HFE mutations v0.23 TFR2 Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
Iron metabolism disorders - NOT common HFE mutations v0.23 TF Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
Iron metabolism disorders - NOT common HFE mutations v0.23 SLC40A1 Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
Iron metabolism disorders - NOT common HFE mutations v0.23 SLC11A2 Louise Daugherty Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia for gene: SLC11A2
Iron metabolism disorders - NOT common HFE mutations v0.23 SERPINC1 Louise Daugherty Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
Iron metabolism disorders - NOT common HFE mutations v0.23 HFE2 Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
Iron metabolism disorders - NOT common HFE mutations v0.23 HFE Louise Daugherty Added phenotypes HFE1; 235200HEMOCHROMATOSIS, TYPE 1 for gene: HFE
Iron metabolism disorders - NOT common HFE mutations v0.23 HAMP Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
Iron metabolism disorders - NOT common HFE mutations v0.23 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Iron metabolism disorders - NOT common HFE mutations v0.23 FTL Louise Daugherty Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL
Iron metabolism disorders - NOT common HFE mutations v0.23 FTH1 Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.23 FECH Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Iron metabolism disorders - NOT common HFE mutations v0.23 CYBRD1 Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: CYBRD1
Iron metabolism disorders - NOT common HFE mutations v0.23 CP Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Iron metabolism disorders - NOT common HFE mutations v0.23 BMP6 Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: BMP6
Iron metabolism disorders - NOT common HFE mutations v0.23 ATP7B Louise Daugherty Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
Iron metabolism disorders - NOT common HFE mutations v0.23 ACVR1 Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
Intellectual disability v2.661 MACF1 Ivone Leong Publications for gene: MACF1 were set to
Intellectual disability v2.660 MACF1 Ivone Leong Phenotypes for gene: MACF1 were changed from Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia to Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia; Lissencephaly 9 with complex brainstem malformation, 618325
Iron metabolism disorders - NOT common HFE mutations v0.21 TMPRSS6 Louise Daugherty Source North West GLH was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.21 TFR2 Louise Daugherty Source North West GLH was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.21 TF Louise Daugherty Source North West GLH was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.21 SLC40A1 Louise Daugherty Source North West GLH was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.21 SLC11A2 Louise Daugherty Source North West GLH was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.21 SERPINC1 Louise Daugherty Source North West GLH was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.21 HFE2 Louise Daugherty Source North West GLH was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.21 HFE Louise Daugherty Source North West GLH was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.21 HEPH Louise Daugherty Source North West GLH was added to HEPH.
Iron metabolism disorders - NOT common HFE mutations v0.21 HAMP Louise Daugherty Source North West GLH was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.21 GBA Louise Daugherty Source North West GLH was added to GBA.
Iron metabolism disorders - NOT common HFE mutations v0.21 FTL Louise Daugherty Source North West GLH was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.21 FTH1 Louise Daugherty Source North West GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.21 FECH Louise Daugherty Source North West GLH was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.21 CYBRD1 Louise Daugherty Source North West GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.21 CP Louise Daugherty Source North West GLH was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.21 BMP6 Louise Daugherty Source North West GLH was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.21 ATP7B Louise Daugherty Source North West GLH was added to ATP7B.
Iron metabolism disorders - NOT common HFE mutations v0.21 ACVR1 Louise Daugherty Source North West GLH was added to ACVR1.
Intellectual disability v2.659 MAB21L1 Ivone Leong Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability v2.659 MAB21L1 Ivone Leong Added comment: Comment on list classification: MAB21L1 has been given a green gene rating based on the evidence provided by the expert review. It is not associated with any phenotypes on OMIM or Gene2Phenotype.
Intellectual disability v2.659 MAB21L1 Ivone Leong Gene: mab21l1 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.28 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.28 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted
Bleeding and platelet disorders v0.28 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.28 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.28 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.28 STX11 Louise Daugherty commented on gene: STX11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STX11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SLC45A2 Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Bleeding and platelet disorders v0.28 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PTPRJ Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PTPN11 Louise Daugherty commented on gene: PTPN11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPN11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 163950 Noonan syndrome 1; PMID(s): none submitted. Comment: ? Appropriate for this panel since Noonan's?
Bleeding and platelet disorders v0.28 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.28 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.28 LYST Louise Daugherty commented on gene: LYST: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LYST; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 214500 Chediak-Higashi syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 KNG1 Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.28 KLKB1 Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 KDSR Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted
Bleeding and platelet disorders v0.28 ITGB3 Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ITGA2B Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ITGA2 Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS6 Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS5 Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS4 Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS3 Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS1 Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP9 Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP6 Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP1BB Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP1BA Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GNE Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 GGCX Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GFI1B Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted. Comment: Think appropriate as Gauchers indocation
Bleeding and platelet disorders v0.28 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FLNA Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 FLI1 Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FERMT3 Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F9 Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F8 Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F7 Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F2R Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Type 1 VWD not strong enough evidence?; PMID(s): none submitted. Comment: not strong enough evidence?
Bleeding and platelet disorders v0.28 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F13B Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F13A1 Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F12 Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F11 Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F10 Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty commented on gene: EPHB2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted. Comment: One recent report
Bleeding and platelet disorders v0.28 ENG Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 DTNBP1 Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.28 DIAPH1 Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 CYCS Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.28 CDC42 Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.28 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ARPC1B Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.28 AP3D1 Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.28 AP3B1 Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ANO6 Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ACTN1 Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ACTB Louise Daugherty commented on gene: ACTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Monogenic hearing loss v1.89 CRYM Eleanor Williams commented on gene: CRYM
Monogenic hearing loss v1.89 CEACAM16 Eleanor Williams Publications for gene: CEACAM16 were set to PMID:16139472; 21368133; 7655461
Bleeding and platelet disorders v0.27 WAS Steve Keeney reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked, 313900 Thrombocytopenia, X-linked (intermittent); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.27 VWF Steve Keeney reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 VPS33B Steve Keeney reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 VKORC1 Steve Keeney reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2, 122700 Warfarin resistance; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 VIPAS39 Steve Keeney reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 TUBB1 Steve Keeney reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 TPM4 Steve Keeney reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 THPO Steve Keeney reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 THBD Steve Keeney reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.27 TBXAS1 Steve Keeney reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 TBXA2R Steve Keeney reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 STXBP2 Steve Keeney reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 STX11 Steve Keeney reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 STIM1 Steve Keeney reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 SRC Steve Keeney reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 SLFN14 Steve Keeney reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 SLC45A2 Steve Keeney reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 SERPINF2 Steve Keeney reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 SERPINE1 Steve Keeney reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 RUNX1 Steve Keeney reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 RBM8A Steve Keeney reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 RASGRP2 Steve Keeney reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PTPRJ Steve Keeney reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PTPN11 Steve Keeney reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 163950 Noonan syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 PTGS1 Steve Keeney reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12, BDPLT12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PRKACG Steve Keeney reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176 BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PLAU Steve Keeney reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 PLA2G4A Steve Keeney reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 P2RY12 Steve Keeney reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 NBEAL2 Steve Keeney reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 NBEA Steve Keeney reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 MYH9 Steve Keeney reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 MPL Steve Keeney reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 MPIG6B Steve Keeney reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 MECOM Steve Keeney reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 MCFD2 Steve Keeney reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 LYST Steve Keeney reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 214500 Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 LMAN1 Steve Keeney reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 KNG1 Steve Keeney reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 KLKB1 Steve Keeney reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 KDSR Steve Keeney reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ITGB3 Steve Keeney reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ITGA2B Steve Keeney reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ITGA2 Steve Keeney reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS6 Steve Keeney reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS5 Steve Keeney reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS4 Steve Keeney reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS3 Steve Keeney reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS1 Steve Keeney reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HOXA11 Steve Keeney reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 GP9 Steve Keeney reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GP6 Steve Keeney reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GP1BB Steve Keeney reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GP1BA Steve Keeney reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GNE Steve Keeney reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GGCX Steve Keeney reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GFI1B Steve Keeney reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GBA Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GATA1 Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.27 FYB1 Steve Keeney reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FLNA Steve Keeney reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.27 FLI1 Steve Keeney reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FGG Steve Keeney reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FGB Steve Keeney reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FGA Steve Keeney reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FERMT3 Steve Keeney reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 F9 Steve Keeney reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F8 Steve Keeney reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F7 Steve Keeney reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F5 Steve Keeney reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F2R Steve Keeney reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F2 Steve Keeney reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F13B Steve Keeney reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F13A1 Steve Keeney reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F12 Steve Keeney reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 F11 Steve Keeney reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F10 Steve Keeney reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 ETV6 Steve Keeney reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 EPHB2 Steve Keeney reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ENG Steve Keeney reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 DTNBP1 Steve Keeney reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 DIAPH1 Steve Keeney reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 CYCS Steve Keeney reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 CDC42 Steve Keeney reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 BLOC1S6 Steve Keeney reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 BLOC1S3 Steve Keeney reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ARPC1B Steve Keeney reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 AP3D1 Steve Keeney reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 AP3B1 Steve Keeney reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ANO6 Steve Keeney reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ANKRD26 Steve Keeney reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 ADAMTS13 Steve Keeney reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ACVRL1 Steve Keeney reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.27 ACTN1 Steve Keeney reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 ACTB Steve Keeney reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ABCG8 Steve Keeney reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ABCG5 Steve Keeney reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.88 CEACAM16 Eleanor Williams Mode of inheritance for gene: CEACAM16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v1.87 CEACAM16 Eleanor Williams Classified gene: CEACAM16 as Green List (high evidence)
Monogenic hearing loss v1.87 CEACAM16 Eleanor Williams Added comment: Comment on list classification: Changed rating from red to green. 3 unrelated cases reported.
Monogenic hearing loss v1.87 CEACAM16 Eleanor Williams Gene: ceacam16 has been classified as Green List (High Evidence).
Intellectual disability v2.658 MAB21L1 Ivone Leong Publications for gene: MAB21L1 were set to 27103078
Monogenic hearing loss v1.86 CEACAM16 Eleanor Williams commented on gene: CEACAM16
Bleeding and platelet disorders v0.26 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS
Bleeding and platelet disorders v0.26 VWF Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
Bleeding and platelet disorders v0.26 VPS33B Louise Daugherty Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Bleeding and platelet disorders v0.26 VKORC1 Louise Daugherty Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
Bleeding and platelet disorders v0.26 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.26 TUBB1 Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Bleeding and platelet disorders v0.26 THPO Louise Daugherty Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Bleeding and platelet disorders v0.26 THBD Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Bleeding and platelet disorders v0.26 TBXAS1 Louise Daugherty Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Bleeding and platelet disorders v0.26 TBXA2R Louise Daugherty Added phenotypes BDPLT13; 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Bleeding and platelet disorders v0.26 STXBP2 Louise Daugherty Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Bleeding and platelet disorders v0.26 STIM1 Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Bleeding and platelet disorders v0.26 SRC Louise Daugherty Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Bleeding and platelet disorders v0.26 SLFN14 Louise Daugherty Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Bleeding and platelet disorders v0.26 SLC45A2 Louise Daugherty Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2
Bleeding and platelet disorders v0.26 SERPINF2 Louise Daugherty Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Bleeding and platelet disorders v0.26 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Bleeding and platelet disorders v0.26 RUNX1 Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Bleeding and platelet disorders v0.26 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Bleeding and platelet disorders v0.26 RASGRP2 Louise Daugherty Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Bleeding and platelet disorders v0.26 PTPN11 Louise Daugherty Added phenotypes 163950 Noonan syndrome 1 for gene: PTPN11
Bleeding and platelet disorders v0.26 PTGS1 Louise Daugherty Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Bleeding and platelet disorders v0.26 PRKACG Louise Daugherty Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Bleeding and platelet disorders v0.26 PLAU Louise Daugherty Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Bleeding and platelet disorders v0.26 PLA2G4A Louise Daugherty Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A
Bleeding and platelet disorders v0.26 P2RY12 Louise Daugherty Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
Bleeding and platelet disorders v0.26 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.26 MYH9 Louise Daugherty Added phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Bleeding and platelet disorders v0.26 MPL Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Bleeding and platelet disorders v0.26 MPIG6B Louise Daugherty Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Bleeding and platelet disorders v0.26 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Bleeding and platelet disorders v0.26 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Bleeding and platelet disorders v0.26 LYST Louise Daugherty Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST
Bleeding and platelet disorders v0.26 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Bleeding and platelet disorders v0.26 KNG1 Louise Daugherty Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1
Bleeding and platelet disorders v0.26 KLKB1 Louise Daugherty Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Bleeding and platelet disorders v0.26 KDSR Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Bleeding and platelet disorders v0.26 ITGB3 Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Bleeding and platelet disorders v0.26 ITGA2B Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Bleeding and platelet disorders v0.26 ITGA2 Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Bleeding and platelet disorders v0.26 HPS6 Louise Daugherty Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Bleeding and platelet disorders v0.26 HPS5 Louise Daugherty Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Bleeding and platelet disorders v0.26 HPS4 Louise Daugherty Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Bleeding and platelet disorders v0.26 HPS3 Louise Daugherty Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Bleeding and platelet disorders v0.26 HPS1 Louise Daugherty Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Bleeding and platelet disorders v0.26 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Bleeding and platelet disorders v0.26 GP9 Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP9
Bleeding and platelet disorders v0.26 GP6 Louise Daugherty Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Bleeding and platelet disorders v0.26 GP1BB Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Bleeding and platelet disorders v0.26 GP1BA Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA
Bleeding and platelet disorders v0.26 GNE Louise Daugherty Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE
Bleeding and platelet disorders v0.26 GGCX Louise Daugherty Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Bleeding and platelet disorders v0.26 GFI1B Louise Daugherty Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Bleeding and platelet disorders v0.26 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Bleeding and platelet disorders v0.26 GATA1 Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Bleeding and platelet disorders v0.26 FYB1 Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Bleeding and platelet disorders v0.26 FLNA Louise Daugherty Added phenotypes Macrothrombocytopenia for gene: FLNA
Bleeding and platelet disorders v0.26 FLI1 Louise Daugherty Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1
Bleeding and platelet disorders v0.26 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Bleeding and platelet disorders v0.26 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Bleeding and platelet disorders v0.26 FGA Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Bleeding and platelet disorders v0.26 FERMT3 Louise Daugherty Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Bleeding and platelet disorders v0.26 F9 Louise Daugherty Added phenotypes 306900 Haemophilia B for gene: F9
Bleeding and platelet disorders v0.26 F8 Louise Daugherty Added phenotypes 306700 Haemophilia A for gene: F8
Bleeding and platelet disorders v0.26 F7 Louise Daugherty Added phenotypes 227500 Factor VII deficiency for gene: F7
Bleeding and platelet disorders v0.26 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Bleeding and platelet disorders v0.26 F2R Louise Daugherty Added phenotypes Type 1 VWD for gene: F2R
Bleeding and platelet disorders v0.26 F2 Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
Bleeding and platelet disorders v0.26 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.26 F13A1 Louise Daugherty Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Bleeding and platelet disorders v0.26 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.26 F11 Louise Daugherty Added phenotypes 612416 Factor XI deficiency for gene: F11
Bleeding and platelet disorders v0.26 F10 Louise Daugherty Added phenotypes 227600 Factor X deficiency for gene: F10
Bleeding and platelet disorders v0.26 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Bleeding and platelet disorders v0.26 ENG Louise Daugherty Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Bleeding and platelet disorders v0.26 DTNBP1 Louise Daugherty Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Bleeding and platelet disorders v0.26 DIAPH1 Louise Daugherty Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1
Bleeding and platelet disorders v0.26 CYCS Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Bleeding and platelet disorders v0.26 CDC42 Louise Daugherty Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Bleeding and platelet disorders v0.26 BLOC1S6 Louise Daugherty Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Bleeding and platelet disorders v0.26 BLOC1S3 Louise Daugherty Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Bleeding and platelet disorders v0.26 ARPC1B Louise Daugherty Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Bleeding and platelet disorders v0.26 AP3D1 Louise Daugherty Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Bleeding and platelet disorders v0.26 AP3B1 Louise Daugherty Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Bleeding and platelet disorders v0.26 ANO6 Louise Daugherty Added phenotypes 262890 Scott syndrome for gene: ANO6
Bleeding and platelet disorders v0.26 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Bleeding and platelet disorders v0.26 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Bleeding and platelet disorders v0.26 ACVRL1 Louise Daugherty Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Bleeding and platelet disorders v0.26 ACTN1 Louise Daugherty Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Bleeding and platelet disorders v0.26 ACTB Louise Daugherty Added phenotypes AD thrombocytopenia for gene: ACTB
Bleeding and platelet disorders v0.26 ABCG8 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Bleeding and platelet disorders v0.26 ABCG5 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Intellectual disability v2.657 MAB21L1 Ivone Leong Phenotypes for gene: MAB21L1 were changed from Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system to Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system; No OMIM number
Bleeding and platelet disorders v0.24 WAS Louise Daugherty Source North West GLH was added to WAS.
Bleeding and platelet disorders v0.24 VWF Louise Daugherty Source North West GLH was added to VWF.
Bleeding and platelet disorders v0.24 VPS33B Louise Daugherty Source North West GLH was added to VPS33B.
Bleeding and platelet disorders v0.24 VKORC1 Louise Daugherty Source North West GLH was added to VKORC1.
Bleeding and platelet disorders v0.24 VIPAS39 Louise Daugherty Source North West GLH was added to VIPAS39.
Bleeding and platelet disorders v0.24 TUBB1 Louise Daugherty Source North West GLH was added to TUBB1.
Bleeding and platelet disorders v0.24 TPM4 Louise Daugherty Source North West GLH was added to TPM4.
Bleeding and platelet disorders v0.24 THPO Louise Daugherty Source North West GLH was added to THPO.
Bleeding and platelet disorders v0.24 THBD Louise Daugherty Source North West GLH was added to THBD.
Bleeding and platelet disorders v0.24 TBXAS1 Louise Daugherty Source North West GLH was added to TBXAS1.
Bleeding and platelet disorders v0.24 TBXA2R Louise Daugherty Source North West GLH was added to TBXA2R.
Bleeding and platelet disorders v0.24 STXBP2 Louise Daugherty Source North West GLH was added to STXBP2.
Bleeding and platelet disorders v0.24 STX11 Louise Daugherty Source North West GLH was added to STX11.
Bleeding and platelet disorders v0.24 STIM1 Louise Daugherty Source North West GLH was added to STIM1.
Bleeding and platelet disorders v0.24 SRC Louise Daugherty Source North West GLH was added to SRC.
Bleeding and platelet disorders v0.24 SLFN14 Louise Daugherty Source North West GLH was added to SLFN14.
Bleeding and platelet disorders v0.24 SLC45A2 Louise Daugherty Source North West GLH was added to SLC45A2.
Bleeding and platelet disorders v0.24 SERPINF2 Louise Daugherty Source North West GLH was added to SERPINF2.
Bleeding and platelet disorders v0.24 SERPINE1 Louise Daugherty Source North West GLH was added to SERPINE1.
Bleeding and platelet disorders v0.24 RUNX1 Louise Daugherty Source North West GLH was added to RUNX1.
Bleeding and platelet disorders v0.24 RBM8A Louise Daugherty Source North West GLH was added to RBM8A.
Bleeding and platelet disorders v0.24 RASGRP2 Louise Daugherty Source North West GLH was added to RASGRP2.
Bleeding and platelet disorders v0.24 PTPRJ Louise Daugherty Source North West GLH was added to PTPRJ.
Bleeding and platelet disorders v0.24 PTPN11 Louise Daugherty Source North West GLH was added to PTPN11.
Bleeding and platelet disorders v0.24 PTGS1 Louise Daugherty Source North West GLH was added to PTGS1.
Bleeding and platelet disorders v0.24 PRKACG Louise Daugherty Source North West GLH was added to PRKACG.
Bleeding and platelet disorders v0.24 PLAU Louise Daugherty Source North West GLH was added to PLAU.
Bleeding and platelet disorders v0.24 PLA2G4A Louise Daugherty Source North West GLH was added to PLA2G4A.
Bleeding and platelet disorders v0.24 P2RY12 Louise Daugherty Source North West GLH was added to P2RY12.
Bleeding and platelet disorders v0.24 NBEAL2 Louise Daugherty Source North West GLH was added to NBEAL2.
Bleeding and platelet disorders v0.24 NBEA Louise Daugherty Source North West GLH was added to NBEA.
Bleeding and platelet disorders v0.24 MYH9 Louise Daugherty Source North West GLH was added to MYH9.
Bleeding and platelet disorders v0.24 MPL Louise Daugherty Source North West GLH was added to MPL.
Bleeding and platelet disorders v0.24 MPIG6B Louise Daugherty Source North West GLH was added to MPIG6B.
Bleeding and platelet disorders v0.24 MECOM Louise Daugherty Source North West GLH was added to MECOM.
Bleeding and platelet disorders v0.24 MCFD2 Louise Daugherty Source North West GLH was added to MCFD2.
Bleeding and platelet disorders v0.24 LYST Louise Daugherty Source North West GLH was added to LYST.
Bleeding and platelet disorders v0.24 LMAN1 Louise Daugherty Source North West GLH was added to LMAN1.
Bleeding and platelet disorders v0.24 KNG1 Louise Daugherty Source North West GLH was added to KNG1.
Bleeding and platelet disorders v0.24 KLKB1 Louise Daugherty Source North West GLH was added to KLKB1.
Bleeding and platelet disorders v0.24 KDSR Louise Daugherty Source North West GLH was added to KDSR.
Bleeding and platelet disorders v0.24 ITGB3 Louise Daugherty Source North West GLH was added to ITGB3.
Bleeding and platelet disorders v0.24 ITGA2B Louise Daugherty Source North West GLH was added to ITGA2B.
Bleeding and platelet disorders v0.24 ITGA2 Louise Daugherty Source North West GLH was added to ITGA2.
Bleeding and platelet disorders v0.24 HPS6 Louise Daugherty Source North West GLH was added to HPS6.
Bleeding and platelet disorders v0.24 HPS5 Louise Daugherty Source North West GLH was added to HPS5.
Bleeding and platelet disorders v0.24 HPS4 Louise Daugherty Source North West GLH was added to HPS4.
Bleeding and platelet disorders v0.24 HPS3 Louise Daugherty Source North West GLH was added to HPS3.
Bleeding and platelet disorders v0.24 HPS1 Louise Daugherty Source North West GLH was added to HPS1.
Bleeding and platelet disorders v0.24 HOXA11 Louise Daugherty Source North West GLH was added to HOXA11.
Bleeding and platelet disorders v0.24 GP9 Louise Daugherty Source North West GLH was added to GP9.
Bleeding and platelet disorders v0.24 GP6 Louise Daugherty Source North West GLH was added to GP6.
Bleeding and platelet disorders v0.24 GP1BB Louise Daugherty Source North West GLH was added to GP1BB.
Bleeding and platelet disorders v0.24 GP1BA Louise Daugherty Source North West GLH was added to GP1BA.
Bleeding and platelet disorders v0.24 GNE Louise Daugherty Source North West GLH was added to GNE.
Bleeding and platelet disorders v0.24 GGCX Louise Daugherty Source North West GLH was added to GGCX.
Bleeding and platelet disorders v0.24 GFI1B Louise Daugherty Source North West GLH was added to GFI1B.
Bleeding and platelet disorders v0.24 GBA Louise Daugherty Source North West GLH was added to GBA.
Bleeding and platelet disorders v0.24 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Bleeding and platelet disorders v0.24 FYB1 Louise Daugherty Source North West GLH was added to FYB1.
Bleeding and platelet disorders v0.24 FLNA Louise Daugherty Source North West GLH was added to FLNA.
Bleeding and platelet disorders v0.24 FLI1 Louise Daugherty Source North West GLH was added to FLI1.
Bleeding and platelet disorders v0.24 FGG Louise Daugherty Source North West GLH was added to FGG.
Bleeding and platelet disorders v0.24 FGB Louise Daugherty Source North West GLH was added to FGB.
Bleeding and platelet disorders v0.24 FGA Louise Daugherty Source North West GLH was added to FGA.
Bleeding and platelet disorders v0.24 FERMT3 Louise Daugherty Source North West GLH was added to FERMT3.
Bleeding and platelet disorders v0.24 F9 Louise Daugherty Source North West GLH was added to F9.
Bleeding and platelet disorders v0.24 F8 Louise Daugherty Source North West GLH was added to F8.
Bleeding and platelet disorders v0.24 F7 Louise Daugherty Source North West GLH was added to F7.
Bleeding and platelet disorders v0.24 F5 Louise Daugherty Source North West GLH was added to F5.
Bleeding and platelet disorders v0.24 F2R Louise Daugherty Source North West GLH was added to F2R.
Bleeding and platelet disorders v0.24 F2 Louise Daugherty Source North West GLH was added to F2.
Bleeding and platelet disorders v0.24 F13B Louise Daugherty Source North West GLH was added to F13B.
Bleeding and platelet disorders v0.24 F13A1 Louise Daugherty Source North West GLH was added to F13A1.
Bleeding and platelet disorders v0.24 F12 Louise Daugherty Source North West GLH was added to F12.
Bleeding and platelet disorders v0.24 F11 Louise Daugherty Source North West GLH was added to F11.
Bleeding and platelet disorders v0.24 F10 Louise Daugherty Source North West GLH was added to F10.
Bleeding and platelet disorders v0.24 ETV6 Louise Daugherty Source North West GLH was added to ETV6.
Bleeding and platelet disorders v0.24 EPHB2 Louise Daugherty Source North West GLH was added to EPHB2.
Bleeding and platelet disorders v0.24 ENG Louise Daugherty Source North West GLH was added to ENG.
Bleeding and platelet disorders v0.24 DTNBP1 Louise Daugherty Source North West GLH was added to DTNBP1.
Bleeding and platelet disorders v0.24 DIAPH1 Louise Daugherty Source North West GLH was added to DIAPH1.
Bleeding and platelet disorders v0.24 CYCS Louise Daugherty Source North West GLH was added to CYCS.
Bleeding and platelet disorders v0.24 CDC42 Louise Daugherty Source North West GLH was added to CDC42.
Bleeding and platelet disorders v0.24 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Bleeding and platelet disorders v0.24 BLOC1S3 Louise Daugherty Source North West GLH was added to BLOC1S3.
Bleeding and platelet disorders v0.24 ARPC1B Louise Daugherty Source North West GLH was added to ARPC1B.
Bleeding and platelet disorders v0.24 AP3D1 Louise Daugherty Source North West GLH was added to AP3D1.
Bleeding and platelet disorders v0.24 AP3B1 Louise Daugherty Source North West GLH was added to AP3B1.
Bleeding and platelet disorders v0.24 ANO6 Louise Daugherty Source North West GLH was added to ANO6.
Bleeding and platelet disorders v0.24 ANKRD26 Louise Daugherty Source North West GLH was added to ANKRD26.
Bleeding and platelet disorders v0.24 ADAMTS13 Louise Daugherty Source North West GLH was added to ADAMTS13.
Bleeding and platelet disorders v0.24 ACVRL1 Louise Daugherty Source North West GLH was added to ACVRL1.
Bleeding and platelet disorders v0.24 ACTN1 Louise Daugherty Source North West GLH was added to ACTN1.
Bleeding and platelet disorders v0.24 ACTB Louise Daugherty Source North West GLH was added to ACTB.
Bleeding and platelet disorders v0.24 ABCG8 Louise Daugherty Source North West GLH was added to ABCG8.
Bleeding and platelet disorders v0.24 ABCG5 Louise Daugherty Source North West GLH was added to ABCG5.
Combined factor V and VIII deficiency v0.19 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Combined factor V and VIII deficiency v0.19 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Monogenic hearing loss v1.86 CCDC50 Eleanor Williams Publications for gene: CCDC50 were set to PMID:12483295; 14527723; 16803894; 17503326
Monogenic hearing loss v1.85 CCDC50 Eleanor Williams Mode of inheritance for gene: CCDC50 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v1.84 CCDC50 Eleanor Williams Classified gene: CCDC50 as Green List (high evidence)
Monogenic hearing loss v1.84 CCDC50 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. 3 cases reported in the literature.
Monogenic hearing loss v1.84 CCDC50 Eleanor Williams Gene: ccdc50 has been classified as Green List (High Evidence).
Combined factor V and VIII deficiency v0.18 MCFD2 Steve Keeney reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Combined factor V and VIII deficiency v0.18 LMAN1 Steve Keeney reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.656 LNPK Ivone Leong Classified gene: LNPK as Amber List (moderate evidence)
Intellectual disability v2.656 LNPK Ivone Leong Added comment: Comment on list classification: LNPK is associated with a phenotype in OMIM but not on Gene2Phenotype. It has been given an amber gene rating based on expert review. A watchlist tag has also been added.
Intellectual disability v2.656 LNPK Ivone Leong Gene: lnpk has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.83 CCDC50 Eleanor Williams commented on gene: CCDC50
Intellectual disability v2.655 LNPK Ivone Leong Tag watchlist tag was added to gene: LNPK.
Combined factor V and VIII deficiency v0.17 MCFD2 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: MCFD2
Combined factor V and VIII deficiency v0.17 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Combined factor V and VIII deficiency v0.16 MCFD2 Louise Daugherty Source North West GLH was added to MCFD2.
Combined factor V and VIII deficiency v0.16 LMAN1 Louise Daugherty Source North West GLH was added to LMAN1.
Intellectual disability v2.655 LNPK Ivone Leong Phenotypes for gene: LNPK were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum; Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090
Monogenic hearing loss v1.83 BDP1 Eleanor Williams commented on gene: BDP1
Monogenic hearing loss v1.83 ATP2B2 Eleanor Williams commented on gene: ATP2B2
Auditory Neuropathy Spectrum Disorde v1.8 DIAPH3 Eleanor Williams Publications for gene: DIAPH3 were set to
Auditory Neuropathy Spectrum Disorde v1.7 DIAPH3 Eleanor Williams Mode of inheritance for gene: DIAPH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Auditory Neuropathy Spectrum Disorde v1.6 DIAPH3 Eleanor Williams Classified gene: DIAPH3 as Amber List (moderate evidence)
Auditory Neuropathy Spectrum Disorde v1.6 DIAPH3 Eleanor Williams Added comment: Comment on list classification: 2 cases reported so changing rating from red to amber
Auditory Neuropathy Spectrum Disorde v1.6 DIAPH3 Eleanor Williams Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Auditory Neuropathy Spectrum Disorde v1.5 DIAPH3 Eleanor Williams commented on gene: DIAPH3
Monogenic hearing loss v1.83 DIAPH3 Eleanor Williams Publications for gene: DIAPH3 were set to PMID: 14767582; 15520414; 18755006; 19457867; 20624953
Monogenic hearing loss v1.82 DIAPH3 Eleanor Williams Classified gene: DIAPH3 as Amber List (moderate evidence)
Monogenic hearing loss v1.82 DIAPH3 Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber as there are now 2 reported cases.
Monogenic hearing loss v1.82 DIAPH3 Eleanor Williams Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.81 DIAPH3 Eleanor Williams commented on gene: DIAPH3
Monogenic hearing loss v1.81 NARS2 Eleanor Williams Publications for gene: NARS2 were set to
Monogenic hearing loss v1.80 NARS2 Eleanor Williams Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.79 CD164 Eleanor Williams Mode of inheritance for gene: CD164 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v1.78 CD164 Eleanor Williams Phenotypes for gene: CD164 were changed from to ?Deafness, autosomal dominant 66 616969
Monogenic hearing loss v1.77 CD164 Eleanor Williams Publications for gene: CD164 were set to
Monogenic hearing loss v1.76 KITLG Eleanor Williams Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric 616697
Monogenic hearing loss v1.75 KITLG Eleanor Williams Publications for gene: KITLG were set to
Monogenic hearing loss v1.74 KITLG Eleanor Williams Classified gene: KITLG as Amber List (moderate evidence)
Monogenic hearing loss v1.74 KITLG Eleanor Williams Added comment: Comment on list classification: Changing rate from red to amber as there are 2 cases
Monogenic hearing loss v1.74 KITLG Eleanor Williams Gene: kitlg has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.73 KITLG Eleanor Williams commented on gene: KITLG
Monogenic hearing loss v1.73 KITLG Eleanor Williams Mode of inheritance for gene: KITLG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v1.72 SLC26A5 Eleanor Williams Classified gene: SLC26A5 as Green List (high evidence)
Monogenic hearing loss v1.72 SLC26A5 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as 3 unrelated cases now reported.
Monogenic hearing loss v1.72 SLC26A5 Eleanor Williams Gene: slc26a5 has been classified as Green List (High Evidence).
Monogenic hearing loss v1.71 SLC26A5 Eleanor Williams Publications for gene: SLC26A5 were set to PMC4185121 (PMID: 25262649); PMID:10821263; 11423665; 11867734; 12239568; 12719379; 16086836; 17998209; 18776049; 19492055; 21689600; 23212912; 24164807; 25262649
Monogenic hearing loss v1.70 SLC26A5 Eleanor Williams commented on gene: SLC26A5
Monogenic hearing loss v1.70 SYNE4 Eleanor Williams Classified gene: SYNE4 as Green List (high evidence)
Monogenic hearing loss v1.70 SYNE4 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are 3 unrelated cases
Monogenic hearing loss v1.70 SYNE4 Eleanor Williams Gene: syne4 has been classified as Green List (High Evidence).
Monogenic hearing loss v1.69 SYNE4 Eleanor Williams Publications for gene: SYNE4 were set to
Monogenic hearing loss v1.68 SYNE4 Eleanor Williams Mode of inheritance for gene: SYNE4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.67 SYNE4 Eleanor Williams commented on gene: SYNE4
Intellectual disability v2.654 CUX1 Konstantinos Varvagiannis gene: CUX1 was added
gene: CUX1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX1 were set to 30014507; 20510857; 25059644
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330
Penetrance for gene: CUX1 were set to unknown
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Heterozygous pathogenic variants in CUX1 cause Global developmental delay with or without impaired intellectual development (MIM 618330).

Platzer et al. (2018 - PMID: 30014507) report on 9 individuals from 7 families with heterozygous null-allele variants in CUX1.

All individuals displayed DD (speech delay 9/9 - motor delay 7/9 - hypotonia 3/7 for whom this information was available). Mild/moderate ID was a feature in 5/8. Catch up was observed in 3/8 individuals who - despite a history of previous significant DD - displayed a normal age-related intelligence. For 1/9 individual (Decipher 338131) information on eventual ID was unavailable. Overall the phenotype was compatible with non-syndromic DD with possible ID.

CUX1 encodes Cut homebox-1 transcription factor.

5 LoF variants (Gln21*, Gln800Argfs*19, Gln873*, Ala1067Cysfs*3, Leu1262Argfs*10) and 2 intragenic deletions (deletion of exons 9-24 in one subject and 3-24 in another) are reported.

In 6/9 individuals the variant (SNV/CNV) had occurred as a de novo event. Mosaic de novo intragenic deletion was reported for the subject from Decipher. In one family 2 sibs with mild ID had inherited a LoF variant from their affected mother with moderate ID (origin of the variant unknown in her case).

Leu1262Argfs*10 lies in the penultimate exon (NM_001202543.1 used as ref.) and is presumed to escape NMD.

Expression studies (or functional studies) are not performed for any of the variants.

As Gln800Argfs*19, found in one subject with mild ID in the present study, has been reported once in gnomAD, and given the presence of 12 individuals overall with LoF variants in the specific database, plausible explanations are discussed (among others : mild phenotype, incomplete penetrance, somatic mosaicism, exclusion of individuals with severe early-onset disorders in gnomAD, etc).

Given the reported variants, the probability of LoF intolerance (pLI:1.00), and the haploinsufficiency score (% HI) of 7.19, haploinsufficiency is thought to be the underlying mechanism. CUX1 however appears to be intolerant also to missense SNVs (z-score : 5.05).

Mouse models suggest a role for Cux1 in brain development and signaling. As the authors note, Cux1 (similar to its paralog, Cux2) is selectively expressed in layer II to IV cortical neurons. In Cux1-deficient mice, dendrites display a simpler morphology with decrease in dendritic length and number of branches (PMIDs cited: 20510857, 25059644). (MGI db for Cux1 - http://www.informatics.jax.org/marker/MGI:88568 : "Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters").

Finally, heterozygous mutations in CUX2, encoding cut-like homeobox-2 transcription factor, cause Epileptic encephalopathy, early infantile, 67 (MIM 618141 - in all cases reported to date due to a recurrent missense variant. Gene rated green in the current panel).
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CUX1 is not associated with any phenotype in G2P.
This gene is included in panels for ID offered by diagnostic laboratories (incl. Radboudumc).
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As a result, CUX1 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Monogenic hearing loss v1.67 SLC26A5 Emma Ashton reviewed gene: SLC26A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24164807, 6824437, 26969326; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.67 SYNE4 Emma Ashton edited their review of gene: SYNE4: Added comment: (Homozygous frameshift, 1 family, both parents confirmed carriers in our lab): Horn et al (2013) PMID 23348741 two families of Iraqi Jewish origin with same 2bp deletion. Masterton et al (2018) PMID 28958982 two siblings in one family homozygous -1G>T.; Changed publications: 23348741, 28958982
Monogenic hearing loss v1.66 S1PR2 Eleanor Williams Classified gene: S1PR2 as Green List (high evidence)
Monogenic hearing loss v1.66 S1PR2 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Variants in 3 independent families reported.
Monogenic hearing loss v1.66 S1PR2 Eleanor Williams Gene: s1pr2 has been classified as Green List (High Evidence).
Monogenic hearing loss v1.65 S1PR2 Eleanor Williams Phenotypes for gene: S1PR2 were changed from to Deafness, autosomal recessive 68 610419
Monogenic hearing loss v1.64 S1PR2 Eleanor Williams Publications for gene: S1PR2 were set to
Monogenic hearing loss v1.63 S1PR2 Eleanor Williams Mode of inheritance for gene: S1PR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.62 S1PR2 Eleanor Williams Deleted their comment
Monogenic hearing loss v1.62 S1PR2 Eleanor Williams commented on gene: S1PR2: Associated with Deafness, autosomal recessive 68 (MIM 610419) in OMIM.

Three independent reports of variants in this gene associated with hearing loss:
1) 2 consanguineous Pakistani families in Santos-Cortez (2016) PMID 26805784
2) 1 consangiuneous Iranian family in Hofrichter et al (2018) PMID 29776397
3) 1 family from GOSH lab
Monogenic hearing loss v1.62 S1PR2 Eleanor Williams commented on gene: S1PR2
Monogenic hearing loss v1.62 OTOGL Eleanor Williams Mode of inheritance for gene: OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.61 OTOGL Eleanor Williams Classified gene: OTOGL as Green List (high evidence)
Monogenic hearing loss v1.61 OTOGL Eleanor Williams Added comment: Comment on list classification: Promoting from red to green as two families reported in PMID: 23122586 plus one reported by GOSH.
Monogenic hearing loss v1.61 OTOGL Eleanor Williams Gene: otogl has been classified as Green List (High Evidence).
Monogenic hearing loss v1.60 OTOGL Eleanor Williams Publications for gene: OTOGL were set to
Monogenic hearing loss v1.59 OTOGL Eleanor Williams commented on gene: OTOGL
Monogenic hearing loss v1.59 TSPEAR Emma Ashton reviewed gene: TSPEAR: Rating: AMBER; Mode of pathogenicity: ; Publications: 26969326, 2678063; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 TNC Emma Ashton reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: ; Publications: 23936043; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 TJP2 Emma Ashton reviewed gene: TJP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24752540; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 SLC17A8 Emma Ashton reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 RPGR Emma Ashton reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 MIR96 Emma Ashton reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 HGF Emma Ashton reviewed gene: HGF: Rating: AMBER; Mode of pathogenicity: ; Publications: 19576567, 27610647; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 HARS2 Emma Ashton reviewed gene: HARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27650058; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 HARS Emma Ashton reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 GJB6 Emma Ashton reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 DIAPH1 Emma Ashton reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 DIABLO Emma Ashton reviewed gene: DIABLO: Rating: AMBER; Mode of pathogenicity: ; Publications: 21722859, 26969326; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 CRYM Emma Ashton reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: ; Publications: 420014; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 CEACAM16 Emma Ashton reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: ; Publications: 21368133, 25589040, 26648831; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 CCDC50 Emma Ashton reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: ; Publications: 24875298, 27911912, 27068579, 17503326; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 BDP1 Emma Ashton reviewed gene: BDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 ATP2B2 Emma Ashton reviewed gene: ATP2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 DIAPH3 Emma Ashton reviewed gene: DIAPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20624953, 27658576; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 NARS2 Emma Ashton reviewed gene: NARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 CD164 Emma Ashton reviewed gene: CD164: Rating: RED; Mode of pathogenicity: ; Publications: 26197441; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 KITLG Emma Ashton reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522471, 28504826; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 SYNE4 Emma Ashton reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24164807, 6824437 ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 SIX5 Emma Ashton reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 S1PR2 Emma Ashton reviewed gene: S1PR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805784, 29776397; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.59 OTOGL Emma Ashton reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v1.58 NARS2 Eleanor Williams gene: NARS2 was added
gene: NARS2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: NARS2 was set to Unknown
Added comment: Added at suggestion of Emma Ashton, GOSH
Sources: Expert list
Monogenic hearing loss v1.57 CD164 Eleanor Williams gene: CD164 was added
gene: CD164 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: CD164 was set to Unknown
Added comment: Added at suggestion of Emma Ashton, GOSH
Sources: Expert list
Congenital fibrosis of the extraocular muscles v0.6 COL25A1 Anna de Burca gene: COL25A1 was added
gene: COL25A1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 25500261
Phenotypes for gene: COL25A1 were set to Fibrosis of extraocular muscles, congenital, 5
Review for gene: COL25A1 was set to AMBER
Added comment: PMID:25500261 reports a consanguineous family with a homozygous missense variant in COL25A1 and a second simplex compound heterozygote for a nonsense mutation and a 12.4 kb deletion spanning exons 4–10 of COL25A1. All affected individuals had features of congenital cranial dysinnervation disorder.
Sources: Literature
Congenital fibrosis of the extraocular muscles v0.5 PHOX2A Anna de Burca gene: PHOX2A was added
gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHOX2A were set to 11600883
Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2
Review for gene: PHOX2A was set to AMBER
Added comment: Gene also known as ARIX.
Sources: Literature
Congenital fibrosis of the extraocular muscles v0.4 KIF21A Anna de Burca gene: KIF21A was added
gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21A were set to 15621876
Phenotypes for gene: KIF21A were set to Congenital fibrosis of the extraocular muscles
Review for gene: KIF21A was set to GREEN
Added comment: Heterozygous missense variants identified in multiple unrelated families of different ethnicities. Arginine 954 appears to represent a mutational hotspot, although other missense variants have also been reported.
Sources: Literature
Congenital fibrosis of the extraocular muscles v0.3 TUBB2B Anna de Burca gene: TUBB2B was added
gene: TUBB2B was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2B were set to 11425694; 23001566
Phenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7
Review for gene: TUBB2B was set to AMBER
Added comment: The association between TUBB2B and polymicrogyria is well documented but in addition PIMD:11425694 and 23001566 report the same two generation family where the mother and two daughters have polymicrogyria, intellectual disability and CFEOM. A missense variant in TUBB2B was present in the mother and two affected daughters and absent in the father and two unaffected siblings. In vitro functional studies showed altered microtubule dynamics.
Sources: Literature
Congenital fibrosis of the extraocular muscles v0.2 TUBB3 Anna de Burca gene: TUBB3 was added
gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to CFEOM3A
Review for gene: TUBB3 was set to AMBER
Added comment: Sources: Literature
Intellectual disability v2.654 LINS1 Ivone Leong Phenotypes for gene: LINS1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Mental retardation, autosomal recessive 27, 614340
Intellectual disability v2.653 LINS1 Ivone Leong Publications for gene: LINS1 were set to
Intellectual disability v2.652 LINGO1 Ivone Leong Classified gene: LINGO1 as Amber List (moderate evidence)
Intellectual disability v2.652 LINGO1 Ivone Leong Added comment: Comment on list classification: Gave LINO1 amber gene rating based on review by Konstantinos Varvagiannis (Other). Have so added the 'watchilist' tag.
Intellectual disability v2.652 LINGO1 Ivone Leong Gene: lingo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.651 LINGO1 Ivone Leong Tag watchlist tag was added to gene: LINGO1.
Bardet Biedl syndrome v0.2 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992
Bardet Biedl syndrome v0.2 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet Biedl syndrome 8, 615985
Bardet Biedl syndrome v0.2 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}, 615991
Bardet Biedl syndrome v0.2 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl Syndrome, 615993
Bardet Biedl syndrome v0.2 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Bardet-Biedl syndrome 13, 615990
Bardet Biedl syndrome v0.2 MKKS Ivone Leong gene: MKKS was added
gene: MKKS was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6, 236700
Bardet Biedl syndrome v0.2 LZTFL1 Ivone Leong gene: LZTFL1 was added
gene: LZTFL1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994
Bardet Biedl syndrome v0.2 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet Biedl syndrome 9, 615986
Bardet Biedl syndrome v0.2 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7, 615984
Bardet Biedl syndrome v0.2 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet Biedl syndrome 5, 615983
Bardet Biedl syndrome v0.2 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet Biedl syndrome 4, 615982
Bardet Biedl syndrome v0.2 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet Biedl syndrome 2, 615981
Bardet Biedl syndrome v0.2 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989
Bardet Biedl syndrome v0.2 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987
Bardet Biedl syndrome v0.2 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet Biedl syndrome 1, 209900
Bardet Biedl syndrome v0.2 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151
Bardet Biedl syndrome v0.2 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800; Bardet-Biedl Syndrome
Anophthalmia or microphthalmia v1.17 PAX2 Ivone Leong Classified gene: PAX2 as Green List (high evidence)
Anophthalmia or microphthalmia v1.17 PAX2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review.
Anophthalmia or microphthalmia v1.17 PAX2 Ivone Leong Gene: pax2 has been classified as Green List (High Evidence).
Structural eye disease v0.9 PAX2 Ivone Leong Publications for gene: PAX2 were set to 8589702
Congenital hyperinsulinism v1.39 INSR Ivone Leong Classified gene: INSR as Green List (high evidence)
Congenital hyperinsulinism v1.39 INSR Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Congenital hyperinsulinism v1.39 INSR Ivone Leong Gene: insr has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.38 TRMT10A Jayne Houghton reviewed gene: TRMT10A: Rating: RED; Mode of pathogenicity: ; Publications: 25053765; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.38 MAFA Jayne Houghton reviewed gene: MAFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.38 INSR Jayne Houghton commented on gene: INSR: We have identified 5 individuals with heterozygous dominant negative INSR variants from 4 different families here in Exeter.
Monogenic diabetes v1.1 ZBTB20 Jayne Houghton reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: 25017102, 22374165; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 PLIN1 Jayne Houghton reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21345103, 21345103, 21345103, 30020498, 11371650, 25695774; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 PCBD1 Jayne Houghton reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24848070, 24204001; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 DCAF17 Jayne Houghton reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 24464444; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 CEL Jayne Houghton reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 27650499, 25160620; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden Deleted their comment
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden commented on gene: MYH7: Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).

See attached MYH7 guidelines (Kelly et al 2018), truncating variants are not a recognised mechanism for disease.
Hypertrophic cardiomyopathy v1.42 GLA James Eden edited their review of gene: GLA: Changed publications: 28369730, 27532257, 29649853, 27225851
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden Deleted their comment
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden edited their review of gene: MYH7: Added comment: Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).

See attached MYH7 guidelines (Kelly et al 2018), LOF is not a mechanism for disease.; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden edited their review of gene: MYH7: Changed publications: 28369730, 27532257, 29300372
Catecholaminergic polymorphic VT v1.6 RYR2 James Eden edited their review of gene: RYR2: Changed publications: 19121813, 27761157, 16391617
Dilated Cardiomyopathy and conduction defects v1.44 TNNI3 James Eden edited their review of gene: TNNI3: Changed publications: 20186049, 27532257, 21533915
Dilated Cardiomyopathy and conduction defects v1.44 TNNT2 James Eden edited their review of gene: TNNT2: Changed publications: 20186049, 27532257, 20031601
Dilated Cardiomyopathy and conduction defects v1.44 TTN James Eden Deleted their comment
Dilated Cardiomyopathy and conduction defects v1.44 TTN James Eden edited their review of gene: TTN: Added comment: Gene currently tested on Manchester cardiac gene panel. 346 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).; Changed publications: 20186049, 27532257, 22335739, 25589632, 29238064, 26777568
Intellectual disability v2.651 PHACTR1 Eleanor Williams commented on gene: PHACTR1
Cytopenia - NOT Fanconi anaemia v0.26 TP53 Louise Daugherty Mode of inheritance for gene: TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.25 TP53 Louise Daugherty Classified gene: TP53 as Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.25 TP53 Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence).
Cytopenia - NOT Fanconi anaemia v0.24 MYSM1 Louise Daugherty Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.23 MYSM1 Louise Daugherty Classified gene: MYSM1 as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.23 MYSM1 Louise Daugherty Gene: mysm1 has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v0.22 FYB1 Louise Daugherty Mode of inheritance for gene: FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.21 FYB1 Louise Daugherty Classified gene: FYB1 as Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.21 FYB1 Louise Daugherty Gene: fyb1 has been classified as Green List (High Evidence).
Cytopenia - NOT Fanconi anaemia v0.20 CYCS Louise Daugherty Mode of inheritance for gene: CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.19 CYCS Louise Daugherty Classified gene: CYCS as Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.19 CYCS Louise Daugherty Gene: cycs has been classified as Green List (High Evidence).
Cytopenia - NOT Fanconi anaemia v0.18 WRAP53 Louise Daugherty commented on gene: WRAP53: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 300299 Neutropenia, severe congenital, X-linked; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 313900 Thrombocytopenia, X-linked; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 VPS45 Louise Daugherty commented on gene: VPS45: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 USB1 Louise Daugherty commented on gene: USB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604173 Poikiloderma with neutropenia; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 TP53 Louise Daugherty reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.18 TINF2 Louise Daugherty commented on gene: TINF2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 187950 Thrombocythemia 1; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 TERT Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 TERC Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 TAZ Louise Daugherty commented on gene: TAZ: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 302060 Barth syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 SRP72 Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614675 Bone marrow failure syndrome 1; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 SBDS Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 SAMD9L Louise Daugherty commented on gene: SAMD9L: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 159550 Ataxia-pancytopenia syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 SAMD9 Louise Daugherty commented on gene: SAMD9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617053 MIRAGE syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 RTEL1 Louise Daugherty commented on gene: RTEL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 PARN Louise Daugherty commented on gene: PARN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PARN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 NBN Louise Daugherty commented on gene: NBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? info not submitted; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 251260 Nijmegen breakage syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 MYSM1 Louise Daugherty reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.18 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 JAGN1 Louise Daugherty commented on gene: JAGN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 HAX1 Louise Daugherty commented on gene: HAX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 GFI1 Louise Daugherty commented on gene: GFI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 GATA2 Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614038 Emberger syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 314050 Thrombocytopenia with beta-thalassemia, X-linked; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 G6PC3 Louise Daugherty commented on gene: G6PC3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 FYB1 Louise Daugherty reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.18 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 ERCC6L2 Louise Daugherty commented on gene: ERCC6L2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615715 Bone marrow failure syndrome 2; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 ELANE Louise Daugherty commented on gene: ELANE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 EFL1 Louise Daugherty commented on gene: EFL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EFL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617941 Shwachman-Diamond syndrome 2; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 DNAJC21 Louise Daugherty commented on gene: DNAJC21: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617052 Bone marrow failure syndrome 3; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 DKC1 Louise Daugherty commented on gene: DKC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 305000 Dyskeratosis congenita; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 CYCS Louise Daugherty reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.18 CXCR4 Louise Daugherty commented on gene: CXCR4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 193670 WHIM syndrome; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 CTC1 Louise Daugherty commented on gene: CTC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Dyskeratosis congenita; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 CSF3R Louise Daugherty commented on gene: CSF3R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.18 ACD Louise Daugherty commented on gene: ACD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): none submitted
Cytopenia - NOT Fanconi anaemia v0.17 WRAP53 Mandy nesbitt reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300299 Neutropenia, severe congenital, X-linked; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 WAS Mandy nesbitt reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 VPS45 Mandy nesbitt reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 USB1 Mandy nesbitt reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604173 Poikiloderma with neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 TP53 Mandy nesbitt reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618165 Bone marrow failure syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 TINF2 Mandy nesbitt reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 THPO Mandy nesbitt reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 TERT Mandy nesbitt reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 TERC Mandy nesbitt reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure, 129550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 TAZ Mandy nesbitt reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 302060 Barth syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.17 SRP72 Mandy nesbitt reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 SBDS Mandy nesbitt reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 SAMD9L Mandy nesbitt reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 159550 Ataxia-pancytopenia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 SAMD9 Mandy nesbitt reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617053 MIRAGE syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 RTEL1 Mandy nesbitt reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 RBM8A Mandy nesbitt reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 PARN Mandy nesbitt reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 NBN Mandy nesbitt reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 251260 Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 MYSM1 Mandy nesbitt reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 618116 Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 MPL Mandy nesbitt reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 MECOM Mandy nesbitt reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 JAGN1 Mandy nesbitt reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 HOXA11 Mandy nesbitt reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 HAX1 Mandy nesbitt reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 GFI1 Mandy nesbitt reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 GATA2 Mandy nesbitt reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 GATA1 Mandy nesbitt reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 314050 Thrombocytopenia with beta-thalassemia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 G6PC3 Mandy nesbitt reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 FYB1 Mandy nesbitt reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 ETV6 Mandy nesbitt reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 ERCC6L2 Mandy nesbitt reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615715 Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 ELANE Mandy nesbitt reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant, 162800 Neutropenia, cyclic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.17 EFL1 Mandy nesbitt reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617941 Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 DNAJC21 Mandy nesbitt reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617052 Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 DKC1 Mandy nesbitt reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia v0.17 CYCS Mandy nesbitt reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 CXCR4 Mandy nesbitt reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 CTC1 Mandy nesbitt reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 CSF3R Mandy nesbitt reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.17 ANKRD26 Mandy nesbitt reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.17 ACD Mandy nesbitt reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.16 WRAP53 Louise Daugherty Added phenotypes 300299 Neutropenia, severe congenital, X-linked for gene: WRAP53
Cytopenia - NOT Fanconi anaemia v0.16 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked for gene: WAS
Cytopenia - NOT Fanconi anaemia v0.16 VPS45 Louise Daugherty Added phenotypes 615285 Neutropenia, severe congenital, 5, autosomal recessive for gene: VPS45
Cytopenia - NOT Fanconi anaemia v0.16 USB1 Louise Daugherty Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1
Cytopenia - NOT Fanconi anaemia v0.16 TP53 Louise Daugherty Added phenotypes 618165 Bone marrow failure syndrome 5 for gene: TP53
Cytopenia - NOT Fanconi anaemia v0.16 TINF2 Louise Daugherty Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3 for gene: TINF2
Cytopenia - NOT Fanconi anaemia v0.16 THPO Louise Daugherty Added phenotypes 187950 Thrombocythemia 1 for gene: THPO
Cytopenia - NOT Fanconi anaemia v0.16 TERT Louise Daugherty Added phenotypes 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} for gene: TERT
Cytopenia - NOT Fanconi anaemia v0.16 TERC Louise Daugherty Added phenotypes 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC
Cytopenia - NOT Fanconi anaemia v0.16 TAZ Louise Daugherty Added phenotypes 302060 Barth syndrome for gene: TAZ
Cytopenia - NOT Fanconi anaemia v0.16 SRP72 Louise Daugherty Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72
Cytopenia - NOT Fanconi anaemia v0.16 SBDS Louise Daugherty Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS
Cytopenia - NOT Fanconi anaemia v0.16 SAMD9L Louise Daugherty Added phenotypes 159550 Ataxia-pancytopenia syndrome for gene: SAMD9L
Cytopenia - NOT Fanconi anaemia v0.16 SAMD9 Louise Daugherty Added phenotypes 617053 MIRAGE syndrome for gene: SAMD9
Cytopenia - NOT Fanconi anaemia v0.16 RTEL1 Louise Daugherty Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RTEL1
Cytopenia - NOT Fanconi anaemia v0.16 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Cytopenia - NOT Fanconi anaemia v0.16 PARN Louise Daugherty Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6 for gene: PARN
Cytopenia - NOT Fanconi anaemia v0.16 NBN Louise Daugherty Added phenotypes 251260 Nijmegen breakage syndrome for gene: NBN
Cytopenia - NOT Fanconi anaemia v0.16 MYSM1 Louise Daugherty Added phenotypes 618116 Bone marrow failure syndrome 4 for gene: MYSM1
Cytopenia - NOT Fanconi anaemia v0.16 MPL Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Cytopenia - NOT Fanconi anaemia v0.16 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Cytopenia - NOT Fanconi anaemia v0.16 JAGN1 Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1
Cytopenia - NOT Fanconi anaemia v0.16 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Cytopenia - NOT Fanconi anaemia v0.16 HAX1 Louise Daugherty Added phenotypes 610738 Neutropenia, severe congenital 3, autosomal recessive for gene: HAX1
Cytopenia - NOT Fanconi anaemia v0.16 GFI1 Louise Daugherty Added phenotypes 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults for gene: GFI1
Cytopenia - NOT Fanconi anaemia v0.16 GATA2 Louise Daugherty Added phenotypes 614038 Emberger syndrome for gene: GATA2
Cytopenia - NOT Fanconi anaemia v0.16 GATA1 Louise Daugherty Added phenotypes 314050 Thrombocytopenia with beta-thalassemia, X-linked for gene: GATA1
Cytopenia - NOT Fanconi anaemia v0.16 G6PC3 Louise Daugherty Added phenotypes 612541 Neutropenia, severe congenital 4, autosomal recessive for gene: G6PC3
Cytopenia - NOT Fanconi anaemia v0.16 FYB1 Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Cytopenia - NOT Fanconi anaemia v0.16 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Cytopenia - NOT Fanconi anaemia v0.16 ERCC6L2 Louise Daugherty Added phenotypes 615715 Bone marrow failure syndrome 2 for gene: ERCC6L2
Cytopenia - NOT Fanconi anaemia v0.16 ELANE Louise Daugherty Added phenotypes 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic for gene: ELANE
Cytopenia - NOT Fanconi anaemia v0.16 EFL1 Louise Daugherty Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
Cytopenia - NOT Fanconi anaemia v0.16 DNAJC21 Louise Daugherty Added phenotypes 617052 Bone marrow failure syndrome 3 for gene: DNAJC21
Cytopenia - NOT Fanconi anaemia v0.16 DKC1 Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1
Cytopenia - NOT Fanconi anaemia v0.16 CYCS Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Cytopenia - NOT Fanconi anaemia v0.16 CXCR4 Louise Daugherty Added phenotypes 193670 WHIM syndrome for gene: CXCR4
Cytopenia - NOT Fanconi anaemia v0.16 CTC1 Louise Daugherty Added phenotypes Dyskeratosis congenita for gene: CTC1
Cytopenia - NOT Fanconi anaemia v0.16 CSF3R Louise Daugherty Added phenotypes 617014 Neutropenia, severe congenital, 7, autosomal recessive for gene: CSF3R
Cytopenia - NOT Fanconi anaemia v0.16 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Cytopenia - NOT Fanconi anaemia v0.16 ACD Louise Daugherty Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Cytopenia - NOT Fanconi anaemia v0.15 TP53 Louise Daugherty Source NHS GMS was added to TP53.
Cytopenia - NOT Fanconi anaemia v0.15 MYSM1 Louise Daugherty Source NHS GMS was added to MYSM1.
Cytopenia - NOT Fanconi anaemia v0.15 FYB1 Louise Daugherty Source NHS GMS was added to FYB1.
Cytopenia - NOT Fanconi anaemia v0.15 CYCS Louise Daugherty Source NHS GMS was added to CYCS.
Cytopenia - NOT Fanconi anaemia v0.14 WRAP53 Louise Daugherty Source Yorkshire and North East GLH was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.14 WAS Louise Daugherty Source Yorkshire and North East GLH was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.14 VPS45 Louise Daugherty Source Yorkshire and North East GLH was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.14 USB1 Louise Daugherty Source Yorkshire and North East GLH was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.14 TP53 Louise Daugherty gene: TP53 was added
gene: TP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: TP53 was set to
Cytopenia - NOT Fanconi anaemia v0.14 TINF2 Louise Daugherty Source Yorkshire and North East GLH was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.14 THPO Louise Daugherty Source Yorkshire and North East GLH was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.14 TERT Louise Daugherty Source Yorkshire and North East GLH was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.14 TERC Louise Daugherty Source Yorkshire and North East GLH was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.14 TAZ Louise Daugherty Source Yorkshire and North East GLH was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.14 SRP72 Louise Daugherty Source Yorkshire and North East GLH was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.14 SBDS Louise Daugherty Source Yorkshire and North East GLH was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.14 SAMD9L Louise Daugherty Source Yorkshire and North East GLH was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.14 SAMD9 Louise Daugherty Source Yorkshire and North East GLH was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.14 RTEL1 Louise Daugherty Source Yorkshire and North East GLH was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.14 RBM8A Louise Daugherty Source Yorkshire and North East GLH was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.14 PARN Louise Daugherty Source Yorkshire and North East GLH was added to PARN.
Cytopenia - NOT Fanconi anaemia v0.14 NBN Louise Daugherty Source Yorkshire and North East GLH was added to NBN.
Cytopenia - NOT Fanconi anaemia v0.14 MYSM1 Louise Daugherty gene: MYSM1 was added
gene: MYSM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MYSM1 was set to
Cytopenia - NOT Fanconi anaemia v0.14 MPL Louise Daugherty Source Yorkshire and North East GLH was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.14 MECOM Louise Daugherty Source Yorkshire and North East GLH was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.14 JAGN1 Louise Daugherty Source Yorkshire and North East GLH was added to JAGN1.
Cytopenia - NOT Fanconi anaemia v0.14 HOXA11 Louise Daugherty Source Yorkshire and North East GLH was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.14 HAX1 Louise Daugherty Source Yorkshire and North East GLH was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.14 GFI1 Louise Daugherty Source Yorkshire and North East GLH was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.14 GATA2 Louise Daugherty Source Yorkshire and North East GLH was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.14 GATA1 Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.14 G6PC3 Louise Daugherty Source Yorkshire and North East GLH was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.14 FYB1 Louise Daugherty gene: FYB1 was added
gene: FYB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: FYB1 was set to
Cytopenia - NOT Fanconi anaemia v0.14 ETV6 Louise Daugherty Source Yorkshire and North East GLH was added to ETV6.
Cytopenia - NOT Fanconi anaemia v0.14 ERCC6L2 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.14 ELANE Louise Daugherty Source Yorkshire and North East GLH was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.14 EFL1 Louise Daugherty Source Yorkshire and North East GLH was added to EFL1.
Cytopenia - NOT Fanconi anaemia v0.14 DNAJC21 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.14 DKC1 Louise Daugherty Source Yorkshire and North East GLH was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.14 CYCS Louise Daugherty gene: CYCS was added
gene: CYCS was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CYCS was set to
Cytopenia - NOT Fanconi anaemia v0.14 CXCR4 Louise Daugherty Source Yorkshire and North East GLH was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.14 CTC1 Louise Daugherty Source Yorkshire and North East GLH was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.14 CSF3R Louise Daugherty Source Yorkshire and North East GLH was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.14 ANKRD26 Louise Daugherty Source Yorkshire and North East GLH was added to ANKRD26.
Cytopenia - NOT Fanconi anaemia v0.14 ACD Louise Daugherty Source Yorkshire and North East GLH was added to ACD.
Intellectual disability v2.651 TCF20 Konstantinos Varvagiannis edited their review of gene: TCF20: Added comment: PMID: 30739909 (Torti et al. 2019) provides information on 27 new individuals and compares with the phenotype of 17 previously reported individuals. DD/ID was an almost universal feature (27/27 or 43/44 when considering all previously published cases).; Changed publications: 30739909, 27436265, 25228304, 28135719, 27479843, 28333917, 28554332, 30525188
Intellectual disability v2.651 SLC35A3 Rebecca Foulger Tag watchlist tag was added to gene: SLC35A3.
Intellectual disability v2.651 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: Added watchlist tag.
Early onset or syndromic epilepsy v1.16 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: Added watchlist tag.
Early onset or syndromic epilepsy v1.16 SLC35A3 Rebecca Foulger Tag watchlist tag was added to gene: SLC35A3.
Early onset or syndromic epilepsy v1.16 SLC35A3 Rebecca Foulger Classified gene: SLC35A3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.16 SLC35A3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Gene was added to panel and rated Green by Konstantinos Varvagiannis. 1 case (multiple individuals from Ashkenazi Jewish kindred) in PMID:24031089 with epilepsy in many individuals. A second epilepsy case comes from PMID:28328131 (Marini et al. 2017). Epilepsy is not recorded in the SLC35A3‐related skeletal dysplasia patient from PMID:28777481 who died at 21days. ClinVar submissions weren't included as additional cases as individual phenotypes were not recorded. Therefore rated Amber awaiting further published or clinical cases.
Early onset or syndromic epilepsy v1.16 SLC35A3 Rebecca Foulger Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.15 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: The 2013 (SCV000108589.2) and 2016 (SCV000699337.1) ClinVar submissions reported in the review by Konstantinos Varvagiannis link to the same publication: Edvardson et al. (2013, PMID:24031089).
Early onset or syndromic epilepsy v1.15 SLC35A3 Rebecca Foulger Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures (MIM 615553) to ?Arthrogryposis, mental retardation, and seizures (MIM 615553); Early onset epileptic encephalopathy with skeletal defects
Early onset or syndromic epilepsy v1.14 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: Marini et al. 2017 (PMID: 28328131) provide a second case. They report a non-consanguineous Italian family with two siblings manifesting severe EE. Both siblings exhibited infantile spasms associated with focal and tonic seizures from early infancy. In addition, both had quadriplegia, acquired microcephaly and severe ID. WGS identified novel compound het variants in SLC35A3 in both children.
Early onset or syndromic epilepsy v1.14 SLC35A3 Rebecca Foulger commented on gene: SLC35A3
Confirmed Fanconi anaemia or Bloom syndrome v0.15 XRCC2 Louise Daugherty Mode of inheritance for gene: XRCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.14 XRCC2 Louise Daugherty Classified gene: XRCC2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.14 XRCC2 Louise Daugherty Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.13 MAD2L2 Louise Daugherty Mode of inheritance for gene: MAD2L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.12 MAD2L2 Louise Daugherty Classified gene: MAD2L2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.12 MAD2L2 Louise Daugherty Gene: mad2l2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.651 SLC35A3 Rebecca Foulger Classified gene: SLC35A3 as Amber List (moderate evidence)
Intellectual disability v2.651 SLC35A3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Gene was added to panel and rated Green by Konstantinos Varvagiannis. 1 case (multiple individuals from Ashkenazi Jewish kindred) in PMID:24031089. A second case comes from PMID:28328131 (Marini et al. 2017). ID is not recorded in the SLC35A3‐related skeletal dysplasia patient from PMID:28777481 who died at 21days. ClinVar submissions weren't included as additional cases as individual phenotypes were not recorded. Therefore rated Amber awaiting further published or clinical cases.
Intellectual disability v2.651 SLC35A3 Rebecca Foulger Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.11 XRCC2 Louise Daugherty reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.11 UBE2T Louise Daugherty commented on gene: UBE2T: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: UBE2T; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616435 Falcon anemia Fanconi anemia, complementation group T; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 TOP3A Louise Daugherty commented on gene: TOP3A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TOP3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 SLX4 Louise Daugherty commented on gene: SLX4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLX4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613951 Fanconi Anemia Fanconi anemia, complementation group P; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 RAD51C Louise Daugherty commented on gene: RAD51C: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RAD51C; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613390 Fanconi anemia, complementation group O; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 PALB2 Louise Daugherty commented on gene: PALB2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PALB2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610832 Fanconi anemia, complementation group N; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 MAD2L2 Louise Daugherty reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCM Louise Daugherty commented on gene: FANCM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614087Fanconi anemia, complementation group M; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCL Louise Daugherty commented on gene: FANCL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614083Fanconi anemia, complementation group L; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCI Louise Daugherty commented on gene: FANCI: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609053 Fanconi anemia, complementation group I; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCG Louise Daugherty commented on gene: FANCG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614082 Fanconi anemia, complementation group G; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCF Louise Daugherty commented on gene: FANCF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 603467 Fanconi anemia, complementation group F; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCE Louise Daugherty commented on gene: FANCE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600901 Fanconi anemia, complementation group E; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCD2 Louise Daugherty commented on gene: FANCD2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227646 Fanconi anemia, complementation group D2; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCC Louise Daugherty commented on gene: FANCC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227645 Fanconi anemia, complementation group C; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCB Louise Daugherty commented on gene: FANCB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300514 Falcon anemia Fanconi anemia, complementation group B; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCA Louise Daugherty commented on gene: FANCA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227650 Fanconi anemia complementation group A; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 ERCC4 Louise Daugherty commented on gene: ERCC4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615272 Fanconi anemia, complementation group Q; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BRIP1 Louise Daugherty commented on gene: BRIP1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRIP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609054 Fanconi anemia, complementation group J; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BRCA2 Louise Daugherty commented on gene: BRCA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605724 Fanconi anemia, complementation group D1; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BRCA1 Louise Daugherty commented on gene: BRCA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617883 Fanconi anemia, complementation group S; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BLM Louise Daugherty commented on gene: BLM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210900 Bloom syndrome; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.10 XRCC2 Mandy nesbitt reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617247 ?Fanconi anemia, complementation group U; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 UBE2T Mandy nesbitt reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616435 Fanconi anemia, complementation group T; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 TOP3A Mandy nesbitt reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 SLX4 Mandy nesbitt reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613951 Fanconi Anemia Fanconi anemia, complementation group P; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 RAD51C Mandy nesbitt reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613390 Fanconi anemia, complementation group O; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 PALB2 Mandy nesbitt reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610832 Fanconi anemia, complementation group N; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 MAD2L2 Mandy nesbitt reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617243 ?Fanconi anemia, complementation group V; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCM Mandy nesbitt reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614087Fanconi anemia, complementation group M; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCL Mandy nesbitt reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614083Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCI Mandy nesbitt reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609053 Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCG Mandy nesbitt reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614082 Fanconi anemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCF Mandy nesbitt reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 603467 Fanconi anemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCE Mandy nesbitt reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600901 Fanconi anemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCD2 Mandy nesbitt reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227646 Fanconi anemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCC Mandy nesbitt reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227645 Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCB Mandy nesbitt reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300514 Fanconi anemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCA Mandy nesbitt reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227650 Fanconi anemia complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 ERCC4 Mandy nesbitt reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615272 Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BRIP1 Mandy nesbitt reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609054 Fanconi anemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BRCA2 Mandy nesbitt reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605724 Fanconi anemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BRCA1 Mandy nesbitt reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617883 Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BLM Mandy nesbitt reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210900 Bloom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.9 XRCC2 Louise Daugherty Added phenotypes 617247 ?Fanconi anemia, complementation group U for gene: XRCC2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 UBE2T Louise Daugherty Added phenotypes 616435 Fanconi anemia, complementation group T for gene: UBE2T
Confirmed Fanconi anaemia or Bloom syndrome v0.9 TOP3A Louise Daugherty Added phenotypes 618097 MGRISCE2 (Bloom-like syndrome) for gene: TOP3A
Confirmed Fanconi anaemia or Bloom syndrome v0.9 SLX4 Louise Daugherty Added phenotypes 613951 Fanconi Anemia Fanconi anemia, complementation group P for gene: SLX4
Confirmed Fanconi anaemia or Bloom syndrome v0.9 RAD51C Louise Daugherty Added phenotypes 613390 Fanconi anemia, complementation group O for gene: RAD51C
Confirmed Fanconi anaemia or Bloom syndrome v0.9 PALB2 Louise Daugherty Added phenotypes 610832 Fanconi anemia, complementation group N for gene: PALB2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 MAD2L2 Louise Daugherty Added phenotypes 617243 ?Fanconi anemia, complementation group V for gene: MAD2L2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCM Louise Daugherty Added phenotypes 614087Fanconi anemia, complementation group M for gene: FANCM
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCL Louise Daugherty Added phenotypes 614083Fanconi anemia, complementation group L for gene: FANCL
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCI Louise Daugherty Added phenotypes 609053 Fanconi anemia, complementation group I for gene: FANCI
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCG Louise Daugherty Added phenotypes 614082 Fanconi anemia, complementation group G for gene: FANCG
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCF Louise Daugherty Added phenotypes 603467 Fanconi anemia, complementation group F for gene: FANCF
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCE Louise Daugherty Added phenotypes 600901 Fanconi anemia, complementation group E for gene: FANCE
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCD2 Louise Daugherty Added phenotypes 227646 Fanconi anemia, complementation group D2 for gene: FANCD2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCC Louise Daugherty Added phenotypes 227645 Fanconi anemia, complementation group C for gene: FANCC
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCB Louise Daugherty Added phenotypes 300514 Fanconi anemia, complementation group B for gene: FANCB
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCA Louise Daugherty Added phenotypes 227650 Fanconi anemia complementation group A for gene: FANCA
Confirmed Fanconi anaemia or Bloom syndrome v0.9 ERCC4 Louise Daugherty Added phenotypes 615272 Fanconi anemia, complementation group Q for gene: ERCC4
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BRIP1 Louise Daugherty Added phenotypes 609054 Fanconi anemia, complementation group J for gene: BRIP1
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BRCA2 Louise Daugherty Added phenotypes 605724 Fanconi anemia, complementation group D1 for gene: BRCA2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BRCA1 Louise Daugherty Added phenotypes 617883 Fanconi anemia, complementation group S for gene: BRCA1
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BLM Louise Daugherty Added phenotypes 210900 Bloom syndrome for gene: BLM
Confirmed Fanconi anaemia or Bloom syndrome v0.8 XRCC2 Louise Daugherty Source NHS GMS was added to XRCC2.
Confirmed Fanconi anaemia or Bloom syndrome v0.8 MAD2L2 Louise Daugherty Source NHS GMS was added to MAD2L2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 XRCC2 Louise Daugherty gene: XRCC2 was added
gene: XRCC2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: XRCC2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.7 UBE2T Louise Daugherty Source Yorkshire and North East GLH was added to UBE2T.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 TOP3A Louise Daugherty Source Yorkshire and North East GLH was added to TOP3A.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 SLX4 Louise Daugherty Source Yorkshire and North East GLH was added to SLX4.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 RAD51C Louise Daugherty Source Yorkshire and North East GLH was added to RAD51C.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 PALB2 Louise Daugherty Source Yorkshire and North East GLH was added to PALB2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 MAD2L2 Louise Daugherty gene: MAD2L2 was added
gene: MAD2L2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MAD2L2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCM Louise Daugherty Source Yorkshire and North East GLH was added to FANCM.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCL Louise Daugherty Source Yorkshire and North East GLH was added to FANCL.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCI Louise Daugherty Source Yorkshire and North East GLH was added to FANCI.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCG Louise Daugherty Source Yorkshire and North East GLH was added to FANCG.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCF Louise Daugherty Source Yorkshire and North East GLH was added to FANCF.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCE Louise Daugherty Source Yorkshire and North East GLH was added to FANCE.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCD2 Louise Daugherty Source Yorkshire and North East GLH was added to FANCD2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCC Louise Daugherty Source Yorkshire and North East GLH was added to FANCC.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCB Louise Daugherty Source Yorkshire and North East GLH was added to FANCB.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCA Louise Daugherty Source Yorkshire and North East GLH was added to FANCA.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 ERCC4 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC4.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BRIP1 Louise Daugherty Source Yorkshire and North East GLH was added to BRIP1.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BRCA2 Louise Daugherty Source Yorkshire and North East GLH was added to BRCA2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BRCA1 Louise Daugherty Source Yorkshire and North East GLH was added to BRCA1.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BLM Louise Daugherty Source Yorkshire and North East GLH was added to BLM.
Intellectual disability v2.650 KCNQ3 Ivone Leong Classified gene: KCNQ3 as Green List (high evidence)
Intellectual disability v2.650 KCNQ3 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green, based on the expert reviews already provided. There are also >3 unrelated cases of patients with different variants in the KCNQ3 gene who have the described phenotype.
Intellectual disability v2.650 KCNQ3 Ivone Leong Gene: kcnq3 has been classified as Green List (High Evidence).
Intellectual disability v2.649 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: The 2013 and 2016 ClinVar submissions SCV000699337.1 and SCV000108589.2 reported in the review by Konstantinos Varvagiannis link to the same publication: Edvardson et al. (2013, PMID:24031089).
Intellectual disability v2.649 PBX1 Eleanor Williams Publications for gene: PBX1 were set to 28566479, 29036646
Intellectual disability v2.648 PBX1 Eleanor Williams Classified gene: PBX1 as Green List (high evidence)
Intellectual disability v2.648 PBX1 Eleanor Williams Added comment: Comment on list classification: More than 3 cases where patients show developmental delay as part of the phenotype.
Intellectual disability v2.648 PBX1 Eleanor Williams Gene: pbx1 has been classified as Green List (High Evidence).
Intellectual disability v2.647 SLC35A3 Rebecca Foulger commented on gene: SLC35A3: Marini et al. 2017 (PMID: 28328131) provide a second case. They report a non-consanguineous Italian family with two siblings manifesting a severe EE. Both siblings exhibited infantile spasms associated with focal and tonic seizures from early infancy. In addition, both had quadriplegia, acquired microcephaly and severe ID. WGS identified novel compound het variants in SLC35A3 in both children.
Intellectual disability v2.647 SLC35A3 Rebecca Foulger commented on gene: SLC35A3
Intellectual disability v2.647 PBX1 Eleanor Williams commented on gene: PBX1
Rare anaemia v0.21 DKC1 Louise Daugherty Mode of inheritance for gene: DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.20 DKC1 Louise Daugherty Classified gene: DKC1 as Green List (high evidence)
Rare anaemia v0.20 DKC1 Louise Daugherty Gene: dkc1 has been classified as Green List (High Evidence).
Rare anaemia v0.19 CD59 Louise Daugherty Classified gene: CD59 as Green List (high evidence)
Rare anaemia v0.19 CD59 Louise Daugherty Gene: cd59 has been classified as Green List (High Evidence).
Rare anaemia v0.18 CD59 Louise Daugherty Mode of inheritance for gene: CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.17 YARS2 Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; PMID(s): none submitted
Rare anaemia v0.17 TSR2 Louise Daugherty commented on gene: TSR2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; PMID(s): none submitted
Rare anaemia v0.17 TRNT1 Louise Daugherty commented on gene: TRNT1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TRNT1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; PMID(s): none submitted
Rare anaemia v0.17 TPI1 Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): none submitted
Rare anaemia v0.17 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200 Iron refractoryirondeficiencyanemia; PMID(s): none submitted
Rare anaemia v0.17 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Congenital hypotransferrinemia; PMID(s): none submitted
Rare anaemia v0.17 TCN2 Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 275350 Transcobalamin II deficiency; PMID(s): none submitted
Rare anaemia v0.17 SPTB Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted
Rare anaemia v0.17 SPTA1 Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3; PMID(s): none submitted
Rare anaemia v0.17 SLC4A1 Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612653 Spherocytosis, type 4;166900 Ovalocytosis, SA type; PMID(s): none submitted
Rare anaemia v0.17 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; PMID(s): none submitted
Rare anaemia v0.17 SLC25A38 Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; PMID(s): none submitted
Rare anaemia v0.17 SLC19A2 Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; PMID(s): none submitted
Rare anaemia v0.17 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): none submitted
Rare anaemia v0.17 SEC23B Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; PMID(s): none submitted
Rare anaemia v0.17 SBDS Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): none submitted
Rare anaemia v0.17 RPS7 Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612563 Diamond_Blackfan Anemia 8; PMID(s): none submitted
Rare anaemia v0.17 RPS29 Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615909 Diamond-Blackfan anemia 13; PMID(s): none submitted
Rare anaemia v0.17 RPS28 Louise Daugherty commented on gene: RPS28: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS28; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; PMID(s): none submitted
Rare anaemia v0.17 RPS27 Louise Daugherty commented on gene: RPS27: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; PMID(s): none submitted
Rare anaemia v0.17 RPS26 Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613309 Diamond_Blackfan Anemia 10; PMID(s): none submitted
Rare anaemia v0.17 RPS24 Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610629 Diamond_Blackfan Anemia 3; PMID(s): none submitted
Rare anaemia v0.17 RPS19 Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 105650 Diamond_Blackfan Anemia 1; PMID(s): none submitted
Rare anaemia v0.17 RPS17 Louise Daugherty commented on gene: RPS17: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS17; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612527 Diamond-Blackfan anemia 4; PMID(s): none submitted
Rare anaemia v0.17 RPS10 Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613308 Diamond_Blackfan Anemia 9; PMID(s): none submitted
Rare anaemia v0.17 RPL9 Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Diamond-Blackfan anemia; PMID(s): none submitted
Rare anaemia v0.17 RPL5 Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612561 Diamond_Blackfan Anemia 6; PMID(s): none submitted
Rare anaemia v0.17 RPL35A Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612528 Diamond_Blackfan Anemia 5; PMID(s): none submitted
Rare anaemia v0.17 RPL31 Louise Daugherty commented on gene: RPL31: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL31; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A ? Diamond-Blackfan Anaemia; PMID(s): none submitted
Rare anaemia v0.17 RPL15 Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615550 ?Diamond-Blackfan anemia 1; PMID(s): none submitted
Rare anaemia v0.17 RPL11 Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612562 Diamond_Blackfan Anemia 7; PMID(s): none submitted
Rare anaemia v0.17 RHAG Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): none submitted
Rare anaemia v0.17 PUS1 Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; PMID(s): none submitted
Rare anaemia v0.17 PKLR Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266200 PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency; PMID(s): none submitted
Rare anaemia v0.17 PIEZO1 Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; PMID(s): none submitted
Rare anaemia v0.17 PFKM Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 232800 Glycogen storage disease VII; PMID(s): none submitted
Rare anaemia v0.17 NT5C3A Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; PMID(s): none submitted
Rare anaemia v0.17 NHP2 Louise Daugherty reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.17 MTRR Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; PMID(s): none submitted
Rare anaemia v0.17 MTR Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; PMID(s): none submitted
Rare anaemia v0.17 LPIN2 Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609628 Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome; PMID(s): none submitted
Rare anaemia v0.17 KLF1 Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613673 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV; PMID(s): none submitted
Rare anaemia v0.17 KIF23 Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Anaemia, dyserythropoietic congenital, type III; PMID(s): none submitted
Rare anaemia v0.17 KCNN4 Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Hereditary Xerocytosis; PMID(s): none submitted
Rare anaemia v0.17 HSPA9 Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted
Rare anaemia v0.17 HK1 Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235700 Enzyme Disorder;Hemolytic anemia due to hexokinase deficiency; PMID(s): none submitted
Rare anaemia v0.17 HBG2 Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 141749 Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1; PMID(s): none submitted
Rare anaemia v0.17 HBG1 Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 141749 Globin Disorder;Fetal hemoglobin quantitative trait locus 1; PMID(s): none submitted
Rare anaemia v0.17 HBD Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: Thalassemia,delta; Thalassemia due to Hb Lepore; PMID(s): none submitted
Rare anaemia v0.17 HBB Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body; PMID(s): none submitted
Rare anaemia v0.17 HBA2 Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 60413 Thalassemia, alpha; PMID(s): none submitted
Rare anaemia v0.17 HBA1 Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604131 Thalassemias, alpha; PMID(s): none submitted
Rare anaemia v0.17 GSS Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231900 Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; PMID(s): none submitted
Rare anaemia v0.17 GSR Louise Daugherty commented on gene: GSR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: N/A Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
Rare anaemia v0.17 GPI Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; PMID(s): none submitted
Rare anaemia v0.17 GLRX5 Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; PMID(s): none submitted
Rare anaemia v0.17 GCLC Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230450 Glutamate-cysteine ligase deficiency; PMID(s): none submitted
Rare anaemia v0.17 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Rare anaemia v0.17 G6PD Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; PMID(s): none submitted
Rare anaemia v0.17 EPB42 Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
Rare anaemia v0.17 EPB41 Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 611804 Hereditary elliptocytosis; PMID(s): none submitted
Rare anaemia v0.17 DHFR Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; PMID(s): none submitted
Rare anaemia v0.17 DKC1 Louise Daugherty reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.17 CYB5R3 Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted
Rare anaemia v0.17 CUBN Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; PMID(s): none submitted
Rare anaemia v0.17 COX4I2 Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; PMID(s): none submitted
Rare anaemia v0.17 CDAN1 Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; PMID(s): none submitted
Rare anaemia v0.17 CD59 Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.17 C15orf41 Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15orf41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615631 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib; PMID(s): none submitted
Rare anaemia v0.17 ANK1 Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 182900 RBC membrane abnormality;Spherocytosis, type 1; PMID(s): none submitted
Rare anaemia v0.17 AMN Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; PMID(s): none submitted
Rare anaemia v0.17 ALDOA Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 611881 Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency; PMID(s): none submitted
Rare anaemia v0.17 ALAS2 Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300751 Anemia, sideroblastic, 1; PMID(s): none submitted
Rare anaemia v0.17 AK1 Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): none submitted
Rare anaemia v0.17 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
Rare anaemia v0.17 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
Rare anaemia v0.17 ABCB7 Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia; PMID(s): none submitted
Rare anaemia v0.16 YARS2 Mandy nesbitt reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 TSR2 Mandy nesbitt reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.16 TRNT1 Mandy nesbitt reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 TPI1 Mandy nesbitt reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 TMPRSS6 Mandy nesbitt reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 Iron refractoryirondeficiencyanemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 TF Mandy nesbitt reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Congenital hypotransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 TCN2 Mandy nesbitt reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 275350 Transcobalamin II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 SPTB Mandy nesbitt reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.16 SPTA1 Mandy nesbitt reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.16 SLC4A1 Mandy nesbitt reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612653 Spherocytosis, type 4, 166900 Ovalocytosis, SA type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 SLC2A1 Mandy nesbitt reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Rare anaemia v0.16 SLC25A38 Mandy nesbitt reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 SLC19A2 Mandy nesbitt reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 SLC11A2 Mandy nesbitt reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 SEC23B Mandy nesbitt reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 SBDS Mandy nesbitt reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.16 RPS7 Mandy nesbitt reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612563 Diamond_Blackfan Anemia 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RPS29 Mandy nesbitt reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615909 Diamond-Blackfan anemia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 RPS28 Mandy nesbitt reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 RPS27 Mandy nesbitt reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 RPS26 Mandy nesbitt reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613309 Diamond_Blackfan Anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RPS24 Mandy nesbitt reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610629 Diamond_Blackfan Anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RPS19 Mandy nesbitt reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 105650 Diamond_Blackfan Anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RPS17 Mandy nesbitt reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612527 Diamond-Blackfan anemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Rare anaemia v0.16 RPS10 Mandy nesbitt reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613308 Diamond_Blackfan Anemia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RPL9 Mandy nesbitt reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A Diamond-Blackfan anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 RPL5 Mandy nesbitt reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612561 Diamond_Blackfan Anemia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RPL35A Mandy nesbitt reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612528 Diamond_Blackfan Anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.16 RPL31 Mandy nesbitt reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A ? Diamond-Blackfan Anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 RPL15 Mandy nesbitt reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615550 ?Diamond-Blackfan anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 RPL11 Mandy nesbitt reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612562 Diamond_Blackfan Anemia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.16 RHAG Mandy nesbitt reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.16 PUS1 Mandy nesbitt reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 PKLR Mandy nesbitt reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266200 PYRUVATE KINASE DEFICIENCY, Enzyme Disorder, Pyruvate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 PIEZO1 Mandy nesbitt reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 194380 Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 PFKM Mandy nesbitt reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 232800 Glycogen storage disease VII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.16 NT5C3A Mandy nesbitt reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 NHP2 Mandy nesbitt reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 MTRR Mandy nesbitt reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 MTR Mandy nesbitt reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 LPIN2 Mandy nesbitt reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609628 Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 KLF1 Mandy nesbitt reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613673 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 KIF23 Mandy nesbitt reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anaemia, dyserythropoietic congenital, type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 KCNN4 Mandy nesbitt reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 HSPA9 Mandy nesbitt reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182170 sideroblastic anaemia type 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 HK1 Mandy nesbitt reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235700 Enzyme Disorder, Hemolytic anemia due to hexokinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 HBG2 Mandy nesbitt reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 141749 Globin Disorder, Cyanosis, transient neonatal, 613977, Fetal hemoglobin quantitative trait locus 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 HBG1 Mandy nesbitt reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 141749 Globin Disorder, Fetal hemoglobin quantitative trait locus 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.16 HBD Mandy nesbitt reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thalassemia,delta, Thalassemia due to Hb Lepore; Mode of inheritance: Unknown
Rare anaemia v0.16 HBB Mandy nesbitt reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613985 Thalassemia, beta, 603902 Thalassemia-beta, dominant inclusion-body; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.16 HBA2 Mandy nesbitt reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 60413 Thalassemia, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.16 HBA1 Mandy nesbitt reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604131 Thalassemias, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.16 GSS Mandy nesbitt reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231900 Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 266130 Glutathione synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 GSR Mandy nesbitt reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
Rare anaemia v0.16 GPI Mandy nesbitt reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 GLRX5 Mandy nesbitt reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 GCLC Mandy nesbitt reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230450 Glutamate-cysteine ligase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 GATA1 Mandy nesbitt reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.16 G6PD Mandy nesbitt reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare anaemia v0.16 EPB42 Mandy nesbitt reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612690 Hereditary spherocytosis type 5, Minkowski-Chauffard disease, Spherocytosis, Recessive, EPB42-related hereditary spherocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 EPB41 Mandy nesbitt reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611804 Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.16 DHFR Mandy nesbitt reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 DKC1 Mandy nesbitt reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.16 CYB5R3 Mandy nesbitt reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250800 Methaemoglobinaemia type I and II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 CUBN Mandy nesbitt reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 COX4I2 Mandy nesbitt reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 CDAN1 Mandy nesbitt reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 CD59 Mandy nesbitt reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita, X-linked; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 C15orf41 Mandy nesbitt reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615631 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 ANK1 Mandy nesbitt reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182900 RBC membrane abnormality, Spherocytosis, type 1; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare anaemia v0.16 AMN Mandy nesbitt reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 ALDOA Mandy nesbitt reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611881 Aldolase A deficiency, Glycogen storage disease due to aldolase A deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.16 ALAS2 Mandy nesbitt reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300751 Anemia, sideroblastic, 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.16 AK1 Mandy nesbitt reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 ABCG8 Mandy nesbitt reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 ABCG5 Mandy nesbitt reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.16 ABCB7 Mandy nesbitt reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301310 Sideroblastic Anemia and Ataxia, Anemia, sideroblastic, with ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare anaemia v0.15 YARS2 Louise Daugherty Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2
Rare anaemia v0.15 TSR2 Louise Daugherty Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis for gene: TSR2
Rare anaemia v0.15 TRNT1 Louise Daugherty Added phenotypes 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay for gene: TRNT1
Rare anaemia v0.15 TPI1 Louise Daugherty Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1
Rare anaemia v0.15 TMPRSS6 Louise Daugherty Added phenotypes 206200 Iron refractoryirondeficiencyanemia for gene: TMPRSS6
Rare anaemia v0.15 TF Louise Daugherty Added phenotypes 209300 Congenital hypotransferrinemia for gene: TF
Rare anaemia v0.15 TCN2 Louise Daugherty Added phenotypes 275350 Transcobalamin II deficiency for gene: TCN2
Rare anaemia v0.15 SPTB Louise Daugherty Added phenotypes 616649 Anemia, neonatal hemolytic, fatal and near-fatal for gene: SPTB
Rare anaemia v0.15 SPTA1 Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3 for gene: SPTA1
Rare anaemia v0.15 SLC4A1 Louise Daugherty Added phenotypes 166900 Ovalocytosis, SA type; 612653 Spherocytosis, type 4 for gene: SLC4A1
Rare anaemia v0.15 SLC2A1 Louise Daugherty Added phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia for gene: SLC2A1
Rare anaemia v0.15 SLC25A38 Louise Daugherty Added phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38
Rare anaemia v0.15 SLC19A2 Louise Daugherty Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome for gene: SLC19A2
Rare anaemia v0.15 SLC11A2 Louise Daugherty Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2
Rare anaemia v0.15 SEC23B Louise Daugherty Added phenotypes 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II for gene: SEC23B
Rare anaemia v0.15 SBDS Louise Daugherty Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS
Rare anaemia v0.15 RPS7 Louise Daugherty Added phenotypes 612563 Diamond_Blackfan Anemia 8 for gene: RPS7
Rare anaemia v0.15 RPS29 Louise Daugherty Added phenotypes 615909 Diamond-Blackfan anemia 13 for gene: RPS29
Rare anaemia v0.15 RPS28 Louise Daugherty Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis for gene: RPS28
Rare anaemia v0.15 RPS27 Louise Daugherty Added phenotypes 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27
Rare anaemia v0.15 RPS26 Louise Daugherty Added phenotypes 613309 Diamond_Blackfan Anemia 10 for gene: RPS26
Rare anaemia v0.15 RPS24 Louise Daugherty Added phenotypes 610629 Diamond_Blackfan Anemia 3 for gene: RPS24
Rare anaemia v0.15 RPS19 Louise Daugherty Added phenotypes 105650 Diamond_Blackfan Anemia 1 for gene: RPS19
Rare anaemia v0.15 RPS17 Louise Daugherty Added phenotypes 612527 Diamond-Blackfan anemia 4 for gene: RPS17
Rare anaemia v0.15 RPS10 Louise Daugherty Added phenotypes 613308 Diamond_Blackfan Anemia 9 for gene: RPS10
Rare anaemia v0.15 RPL9 Louise Daugherty Added phenotypes N/A Diamond-Blackfan anemia for gene: RPL9
Rare anaemia v0.15 RPL5 Louise Daugherty Added phenotypes 612561 Diamond_Blackfan Anemia 6 for gene: RPL5
Rare anaemia v0.15 RPL35A Louise Daugherty Added phenotypes 612528 Diamond_Blackfan Anemia 5 for gene: RPL35A
Rare anaemia v0.15 RPL31 Louise Daugherty Added phenotypes N/A ? Diamond-Blackfan Anaemia for gene: RPL31
Rare anaemia v0.15 RPL15 Louise Daugherty Added phenotypes 615550 ?Diamond-Blackfan anemia 1 for gene: RPL15
Rare anaemia v0.15 RPL11 Louise Daugherty Added phenotypes 612562 Diamond_Blackfan Anemia 7 for gene: RPL11
Rare anaemia v0.15 RHAG Louise Daugherty Added phenotypes 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
Rare anaemia v0.15 PUS1 Louise Daugherty Added phenotypes 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia for gene: PUS1
Rare anaemia v0.15 PKLR Louise Daugherty Added phenotypes Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder for gene: PKLR
Rare anaemia v0.15 PIEZO1 Louise Daugherty Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis for gene: PIEZO1
Rare anaemia v0.15 PFKM Louise Daugherty Added phenotypes 232800 Glycogen storage disease VII for gene: PFKM
Rare anaemia v0.15 NT5C3A Louise Daugherty Added phenotypes 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A
Rare anaemia v0.15 NHP2 Louise Daugherty Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
Rare anaemia v0.15 MTRR Louise Daugherty Added phenotypes 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR
Rare anaemia v0.15 MTR Louise Daugherty Added phenotypes 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR
Rare anaemia v0.15 LPIN2 Louise Daugherty Added phenotypes Majeed syndrome; CDA; 609628 Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
Rare anaemia v0.15 KLF1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV; 613673 Congenital Dyserythropoietic Anemia for gene: KLF1
Rare anaemia v0.15 KIF23 Louise Daugherty Added phenotypes Anaemia, dyserythropoietic congenital, type III for gene: KIF23
Rare anaemia v0.15 KCNN4 Louise Daugherty Added phenotypes Hereditary Xerocytosis for gene: KCNN4
Rare anaemia v0.15 HSPA9 Louise Daugherty Added phenotypes 182170 sideroblastic anaemia type 4 for gene: HSPA9
Rare anaemia v0.15 HK1 Louise Daugherty Added phenotypes 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency for gene: HK1
Rare anaemia v0.15 HBG2 Louise Daugherty Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG2
Rare anaemia v0.15 HBG1 Louise Daugherty Added phenotypes Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG1
Rare anaemia v0.15 HBD Louise Daugherty Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD
Rare anaemia v0.15 HBB Louise Daugherty Added phenotypes 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body for gene: HBB
Rare anaemia v0.15 HBA2 Louise Daugherty Added phenotypes 60413 Thalassemia, alpha for gene: HBA2
Rare anaemia v0.15 HBA1 Louise Daugherty Added phenotypes 604131 Thalassemias, alpha for gene: HBA1
Rare anaemia v0.15 GSS Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; 231900 Enzyme Disorder for gene: GSS
Rare anaemia v0.15 GSR Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR
Rare anaemia v0.15 GPI Louise Daugherty Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency for gene: GPI
Rare anaemia v0.15 GLRX5 Louise Daugherty Added phenotypes 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive for gene: GLRX5
Rare anaemia v0.15 GCLC Louise Daugherty Added phenotypes 230450 Glutamate-cysteine ligase deficiency for gene: GCLC
Rare anaemia v0.15 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; 300367 Diamond Blackfan Anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Rare anaemia v0.15 G6PD Louise Daugherty Added phenotypes 300908 Hemolytic anemia due to G6PD deficiency for gene: G6PD
Rare anaemia v0.15 EPB42 Louise Daugherty Added phenotypes Minkowski-Chauffard disease; Spherocytosis, Recessive; 612690 Hereditary spherocytosis type 5; EPB42-related hereditary spherocytosis for gene: EPB42
Rare anaemia v0.15 EPB41 Louise Daugherty Added phenotypes 611804 Hereditary elliptocytosis for gene: EPB41
Rare anaemia v0.15 DHFR Louise Daugherty Added phenotypes 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR
Rare anaemia v0.15 DKC1 Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1
Rare anaemia v0.15 CYB5R3 Louise Daugherty Added phenotypes 250800 Methaemoglobinaemia type I and II for gene: CYB5R3
Rare anaemia v0.15 CUBN Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN
Rare anaemia v0.15 COX4I2 Louise Daugherty Added phenotypes 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
Rare anaemia v0.15 CDAN1 Louise Daugherty Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1
Rare anaemia v0.15 CD59 Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: CD59
Rare anaemia v0.15 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital Dyserythropoietic Anemia for gene: C15orf41
Rare anaemia v0.15 ANK1 Louise Daugherty Added phenotypes 182900 RBC membrane abnormality; Spherocytosis, type 1 for gene: ANK1
Rare anaemia v0.15 AMN Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type for gene: AMN
Rare anaemia v0.15 ALDOA Louise Daugherty Added phenotypes Glycogen storage disease due to aldolase A deficiency; 611881 Aldolase A deficiency for gene: ALDOA
Rare anaemia v0.15 ALAS2 Louise Daugherty Added phenotypes 300751 Anemia, sideroblastic, 1 for gene: ALAS2
Rare anaemia v0.15 AK1 Louise Daugherty Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1
Rare anaemia v0.15 ABCG8 Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG8
Rare anaemia v0.15 ABCG5 Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG5
Rare anaemia v0.15 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia; 301310 Sideroblastic Anemia and Ataxia for gene: ABCB7
Rare anaemia v0.14 NHP2 Louise Daugherty Source NHS GMS was added to NHP2.
Rare anaemia v0.14 DKC1 Louise Daugherty Source NHS GMS was added to DKC1.
Rare anaemia v0.14 CD59 Louise Daugherty Source NHS GMS was added to CD59.
Rare anaemia v0.13 YARS2 Louise Daugherty Source Yorkshire and North East GLH was added to YARS2.
Rare anaemia v0.13 TSR2 Louise Daugherty Source Yorkshire and North East GLH was added to TSR2.
Rare anaemia v0.13 TRNT1 Louise Daugherty Source Yorkshire and North East GLH was added to TRNT1.
Rare anaemia v0.13 TPI1 Louise Daugherty Source Yorkshire and North East GLH was added to TPI1.
Rare anaemia v0.13 TMPRSS6 Louise Daugherty Source Yorkshire and North East GLH was added to TMPRSS6.
Rare anaemia v0.13 TF Louise Daugherty Source Yorkshire and North East GLH was added to TF.
Rare anaemia v0.13 TCN2 Louise Daugherty Source Yorkshire and North East GLH was added to TCN2.
Rare anaemia v0.13 SPTB Louise Daugherty Source Yorkshire and North East GLH was added to SPTB.
Rare anaemia v0.13 SPTA1 Louise Daugherty Source Yorkshire and North East GLH was added to SPTA1.
Rare anaemia v0.13 SLC4A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC4A1.
Rare anaemia v0.13 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Rare anaemia v0.13 SLC25A38 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A38.
Rare anaemia v0.13 SLC19A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC19A2.
Rare anaemia v0.13 SLC11A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC11A2.
Rare anaemia v0.13 SEC23B Louise Daugherty Source Yorkshire and North East GLH was added to SEC23B.
Rare anaemia v0.13 SBDS Louise Daugherty Source Yorkshire and North East GLH was added to SBDS.
Rare anaemia v0.13 RPS7 Louise Daugherty Source Yorkshire and North East GLH was added to RPS7.
Rare anaemia v0.13 RPS29 Louise Daugherty Source Yorkshire and North East GLH was added to RPS29.
Rare anaemia v0.13 RPS28 Louise Daugherty Source Yorkshire and North East GLH was added to RPS28.
Rare anaemia v0.13 RPS27 Louise Daugherty Source Yorkshire and North East GLH was added to RPS27.
Rare anaemia v0.13 RPS26 Louise Daugherty Source Yorkshire and North East GLH was added to RPS26.
Rare anaemia v0.13 RPS24 Louise Daugherty Source Yorkshire and North East GLH was added to RPS24.
Rare anaemia v0.13 RPS19 Louise Daugherty Source Yorkshire and North East GLH was added to RPS19.
Rare anaemia v0.13 RPS17 Louise Daugherty Source Yorkshire and North East GLH was added to RPS17.
Rare anaemia v0.13 RPS10 Louise Daugherty Source Yorkshire and North East GLH was added to RPS10.
Rare anaemia v0.13 RPL9 Louise Daugherty Source Yorkshire and North East GLH was added to RPL9.
Rare anaemia v0.13 RPL5 Louise Daugherty Source Yorkshire and North East GLH was added to RPL5.
Rare anaemia v0.13 RPL35A Louise Daugherty Source Yorkshire and North East GLH was added to RPL35A.
Rare anaemia v0.13 RPL31 Louise Daugherty Source Yorkshire and North East GLH was added to RPL31.
Rare anaemia v0.13 RPL15 Louise Daugherty Source Yorkshire and North East GLH was added to RPL15.
Rare anaemia v0.13 RPL11 Louise Daugherty Source Yorkshire and North East GLH was added to RPL11.
Rare anaemia v0.13 RHAG Louise Daugherty Source Yorkshire and North East GLH was added to RHAG.
Rare anaemia v0.13 PUS1 Louise Daugherty Source Yorkshire and North East GLH was added to PUS1.
Rare anaemia v0.13 PKLR Louise Daugherty Source Yorkshire and North East GLH was added to PKLR.
Rare anaemia v0.13 PIEZO1 Louise Daugherty Source Yorkshire and North East GLH was added to PIEZO1.
Rare anaemia v0.13 PFKM Louise Daugherty Source Yorkshire and North East GLH was added to PFKM.
Rare anaemia v0.13 NT5C3A Louise Daugherty Source Yorkshire and North East GLH was added to NT5C3A.
Rare anaemia v0.13 NHP2 Louise Daugherty gene: NHP2 was added
gene: NHP2 was added to Rare anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: NHP2 was set to
Rare anaemia v0.13 MTRR Louise Daugherty Source Yorkshire and North East GLH was added to MTRR.
Rare anaemia v0.13 MTR Louise Daugherty Source Yorkshire and North East GLH was added to MTR.
Rare anaemia v0.13 LPIN2 Louise Daugherty Source Yorkshire and North East GLH was added to LPIN2.
Rare anaemia v0.13 KLF1 Louise Daugherty Source Yorkshire and North East GLH was added to KLF1.
Rare anaemia v0.13 KIF23 Louise Daugherty Source Yorkshire and North East GLH was added to KIF23.
Rare anaemia v0.13 KCNN4 Louise Daugherty Source Yorkshire and North East GLH was added to KCNN4.
Rare anaemia v0.13 HSPA9 Louise Daugherty Source Yorkshire and North East GLH was added to HSPA9.
Rare anaemia v0.13 HK1 Louise Daugherty Source Yorkshire and North East GLH was added to HK1.
Rare anaemia v0.13 HBG2 Louise Daugherty Source Yorkshire and North East GLH was added to HBG2.
Rare anaemia v0.13 HBG1 Louise Daugherty Source Yorkshire and North East GLH was added to HBG1.
Rare anaemia v0.13 HBD Louise Daugherty Source Yorkshire and North East GLH was added to HBD.
Rare anaemia v0.13 HBB Louise Daugherty Source Yorkshire and North East GLH was added to HBB.
Rare anaemia v0.13 HBA2 Louise Daugherty Source Yorkshire and North East GLH was added to HBA2.
Rare anaemia v0.13 HBA1 Louise Daugherty Source Yorkshire and North East GLH was added to HBA1.
Rare anaemia v0.13 GSS Louise Daugherty Source Yorkshire and North East GLH was added to GSS.
Rare anaemia v0.13 GSR Louise Daugherty Source Yorkshire and North East GLH was added to GSR.
Rare anaemia v0.13 GPI Louise Daugherty Source Yorkshire and North East GLH was added to GPI.
Rare anaemia v0.13 GLRX5 Louise Daugherty Source Yorkshire and North East GLH was added to GLRX5.
Rare anaemia v0.13 GCLC Louise Daugherty Source Yorkshire and North East GLH was added to GCLC.
Rare anaemia v0.13 GATA1 Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
Rare anaemia v0.13 G6PD Louise Daugherty Source Yorkshire and North East GLH was added to G6PD.
Rare anaemia v0.13 EPB42 Louise Daugherty Source Yorkshire and North East GLH was added to EPB42.
Rare anaemia v0.13 EPB41 Louise Daugherty Source Yorkshire and North East GLH was added to EPB41.
Rare anaemia v0.13 DHFR Louise Daugherty Source Yorkshire and North East GLH was added to DHFR.
Rare anaemia v0.13 DKC1 Louise Daugherty gene: DKC1 was added
gene: DKC1 was added to Rare anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: DKC1 was set to
Rare anaemia v0.13 CYB5R3 Louise Daugherty Source Yorkshire and North East GLH was added to CYB5R3.
Rare anaemia v0.13 CUBN Louise Daugherty Source Yorkshire and North East GLH was added to CUBN.
Rare anaemia v0.13 COX4I2 Louise Daugherty Source Yorkshire and North East GLH was added to COX4I2.
Rare anaemia v0.13 CDAN1 Louise Daugherty Source Yorkshire and North East GLH was added to CDAN1.
Rare anaemia v0.13 CD59 Louise Daugherty gene: CD59 was added
gene: CD59 was added to Rare anaemia. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CD59 was set to
Rare anaemia v0.13 C15orf41 Louise Daugherty Source Yorkshire and North East GLH was added to C15orf41.
Rare anaemia v0.13 ANK1 Louise Daugherty Source Yorkshire and North East GLH was added to ANK1.
Rare anaemia v0.13 AMN Louise Daugherty Source Yorkshire and North East GLH was added to AMN.
Rare anaemia v0.13 ALDOA Louise Daugherty Source Yorkshire and North East GLH was added to ALDOA.
Rare anaemia v0.13 ALAS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALAS2.
Rare anaemia v0.13 AK1 Louise Daugherty Source Yorkshire and North East GLH was added to AK1.
Rare anaemia v0.13 ABCG8 Louise Daugherty Source Yorkshire and North East GLH was added to ABCG8.
Rare anaemia v0.13 ABCG5 Louise Daugherty Source Yorkshire and North East GLH was added to ABCG5.
Rare anaemia v0.13 ABCB7 Louise Daugherty Source Yorkshire and North East GLH was added to ABCB7.
Early onset or syndromic epilepsy v1.14 PAK1 Eleanor Williams Classified gene: PAK1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.14 PAK1 Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. 2 cases to date. Appears to be gain of function. Both missense variants.
Early onset or syndromic epilepsy v1.14 PAK1 Eleanor Williams Gene: pak1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.13 PAK1 Eleanor Williams commented on gene: PAK1
Intellectual disability v2.647 PAK1 Eleanor Williams Classified gene: PAK1 as Amber List (moderate evidence)
Intellectual disability v2.647 PAK1 Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. 2 cases to date. Appears to be gain of function
Intellectual disability v2.647 PAK1 Eleanor Williams Gene: pak1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.646 PAK1 Eleanor Williams commented on gene: PAK1
Intellectual disability v2.646 KCNK4 Ivone Leong Classified gene: KCNK4 as Amber List (moderate evidence)
Intellectual disability v2.646 KCNK4 Ivone Leong Added comment: Comment on list classification: Given an amber rating as there is currently only one report detailing 3 unrelated patients (2 Italian and 1 of European ancestry) who have variants (2 patients have the same missense variant and the third patient has a different missense variant). The paper also describe some in vitro cell studies.
Intellectual disability v2.646 KCNK4 Ivone Leong Gene: kcnk4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.645 ODC1 Eleanor Williams Classified gene: ODC1 as Green List (high evidence)
Intellectual disability v2.645 ODC1 Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to green. 5 unrelated cases with likely disease causing variants. All de novo.
Intellectual disability v2.645 ODC1 Eleanor Williams Gene: odc1 has been classified as Green List (High Evidence).
Intellectual disability v2.644 ODC1 Eleanor Williams commented on gene: ODC1
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 TP53 Louise Daugherty commented on gene: TP53: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 TERT Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 601626 {Leukemia, acute myeloid}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 TERC Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614743 {Aplastic anemia}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 SRP72 Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 602122 Bone marrow failure syndrome 1;; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 GATA2 Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 DDX41 Louise Daugherty commented on gene: DDX41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 CHEK2 Louise Daugherty commented on gene: CHEK2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CHEK2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.11 CEBPA Louise Daugherty commented on gene: CEBPA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 TP53 Mandy nesbitt reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 TERT Mandy nesbitt reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 TERC Mandy nesbitt reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614743 {Aplastic anemia}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 SRP72 Mandy nesbitt reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 602122 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 RUNX1 Mandy nesbitt reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 GATA2 Mandy nesbitt reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 ETV6 Mandy nesbitt reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 DDX41 Mandy nesbitt reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 CHEK2 Mandy nesbitt reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.10 CEBPA Mandy nesbitt reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 TP53 Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 TERT Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid} for gene: TERT
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 TERC Louise Daugherty Added phenotypes 614743 {Aplastic anemia} for gene: TERC
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 SRP72 Louise Daugherty Added phenotypes 602122 Bone marrow failure syndrome 1 for gene: SRP72
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 RUNX1 Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 GATA2 Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 ETV6 Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: ETV6
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 DDX41 Louise Daugherty Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 CHEK2 Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2
Inherited predisposition to acute myeloid leukaemia (AML) v0.9 CEBPA Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: CEBPA
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 TP53 Louise Daugherty Source Yorkshire and North East GLH was added to TP53.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 TERT Louise Daugherty Source Yorkshire and North East GLH was added to TERT.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 TERC Louise Daugherty Source Yorkshire and North East GLH was added to TERC.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 SRP72 Louise Daugherty Source Yorkshire and North East GLH was added to SRP72.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 RUNX1 Louise Daugherty Source Yorkshire and North East GLH was added to RUNX1.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 GATA2 Louise Daugherty Source Yorkshire and North East GLH was added to GATA2.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 ETV6 Louise Daugherty Source Yorkshire and North East GLH was added to ETV6.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 DDX41 Louise Daugherty Source Yorkshire and North East GLH was added to DDX41.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 CHEK2 Louise Daugherty Source Yorkshire and North East GLH was added to CHEK2.
Inherited predisposition to acute myeloid leukaemia (AML) v0.7 CEBPA Louise Daugherty Source Yorkshire and North East GLH was added to CEBPA.
Intellectual disability v2.644 KARS Ivone Leong Classified gene: KARS as Green List (high evidence)
Intellectual disability v2.644 KARS Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on the evidence provided by Zornitza Stark (Australian Genomics) and Konstantinos Varvagiannis (Other).
Intellectual disability v2.644 KARS Ivone Leong Gene: kars has been classified as Green List (High Evidence).
Intellectual disability v2.643 KARS Ivone Leong Phenotypes for gene: KARS were changed from ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 to Global developmental delay; Intellectual disability; Seizures; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Intellectual disability v2.642 NUS1 Eleanor Williams commented on gene: NUS1
Thrombophilia with a likely monogenic cause v0.29 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 SERPIND1 Louise Daugherty commented on gene: SERPIND1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPIND1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 SERPINC1 Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PROS1 Louise Daugherty commented on gene: PROS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant;614514 Thrombophilia due to protein S deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PROCR Louise Daugherty commented on gene: PROCR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROCR; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: Thrombophilia; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PROC Louise Daugherty commented on gene: PROC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant;612304 Thrombophilia due to protein C deficiency, autosomal recessive; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PLG Louise Daugherty commented on gene: PLG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 217090 Plasminogen deficiency, type I; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PLAT Louise Daugherty commented on gene: PLAT: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAT; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612348 Thrombophilia, familial, due to decreased release of PLAT; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 PIGA Louise Daugherty commented on gene: PIGA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300818 Paroxysmal nocturnal hemoglobinuria, somatic; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 HRG Louise Daugherty commented on gene: HRG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HRG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital;105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency;188055 Thrombophilia due to activated protein C resistance;188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613679 Dysprothrombinemia;613679 Hypoprothrombinemia;188050 Thrombophilia due to thrombin defect; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.29 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Intellectual disability v2.642 SLC1A2 Rebecca Foulger Classified gene: SLC1A2 as Green List (high evidence)
Intellectual disability v2.642 SLC1A2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. Added to panel and reviewed Green by Konstantinos Varvagiannis. As noted by Konstantinos Varvagiannis, 4 unrelated individuals reported (PMIDs:27476654, 28777935) all with profound/severe ID as a feature. Therefore sufficient cases to support a Green (diagnostic-grade) rating.
Intellectual disability v2.642 SLC1A2 Rebecca Foulger Gene: slc1a2 has been classified as Green List (High Evidence).
Thrombophilia with a likely monogenic cause v0.28 THBD Mandy nesbitt reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thrombophilia with a likely monogenic cause v0.28 SERPINE1 Mandy nesbitt reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.28 SERPIND1 Mandy nesbitt reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.28 SERPINC1 Mandy nesbitt reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 PROS1 Mandy nesbitt reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 PROCR Mandy nesbitt reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: 24051141; Phenotypes: ?Thrombophilia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.28 PROC Mandy nesbitt reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 PLG Mandy nesbitt reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 217090 Plasminogen deficiency, type I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.28 PLAT Mandy nesbitt reviewed gene: PLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 612348 Thrombophilia, familial, due to decreased release of PLAT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.28 PIGA Mandy nesbitt reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300818 Paroxysmal nocturnal hemoglobinuria, somatic; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thrombophilia with a likely monogenic cause v0.28 HRG Mandy nesbitt reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613116 Thrombophilia due to HRG deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.28 FGG Mandy nesbitt reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 FGB Mandy nesbitt reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 FGA Mandy nesbitt reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 F5 Mandy nesbitt reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 F2 Mandy nesbitt reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.28 ADAMTS13 Mandy nesbitt reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.641 SLC1A2 Rebecca Foulger commented on gene: SLC1A2
Intellectual disability v2.641 SLC1A2 Rebecca Foulger Phenotypes for gene: SLC1A2 were changed from Epileptic encephalopathy, early infantile, 41, 617105 to Epileptic encephalopathy, early infantile, 41, 617105; Intellectual disability
Intellectual disability v2.640 KARS Ivone Leong Publications for gene: KARS were set to 29615062; 30252186; 28496994; 28887846, 25330800
Thrombophilia with a likely monogenic cause v0.27 THBD Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Thrombophilia with a likely monogenic cause v0.27 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Thrombophilia with a likely monogenic cause v0.27 SERPIND1 Louise Daugherty Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1
Thrombophilia with a likely monogenic cause v0.27 SERPINC1 Louise Daugherty Added phenotypes 613118 Thrombophilia due to antithrombin III deficiency for gene: SERPINC1
Thrombophilia with a likely monogenic cause v0.27 PROS1 Louise Daugherty Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
Thrombophilia with a likely monogenic cause v0.27 PROCR Louise Daugherty Added phenotypes ?Thrombophilia for gene: PROCR
Thrombophilia with a likely monogenic cause v0.27 PROC Louise Daugherty Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
Thrombophilia with a likely monogenic cause v0.27 PLG Louise Daugherty Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG
Thrombophilia with a likely monogenic cause v0.27 PLAT Louise Daugherty Added phenotypes 612348 Thrombophilia, familial, due to decreased release of PLAT for gene: PLAT
Thrombophilia with a likely monogenic cause v0.27 PIGA Louise Daugherty Added phenotypes 300818 Paroxysmal nocturnal hemoglobinuria, somatic for gene: PIGA
Thrombophilia with a likely monogenic cause v0.27 HRG Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Thrombophilia with a likely monogenic cause v0.27 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Thrombophilia with a likely monogenic cause v0.27 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Thrombophilia with a likely monogenic cause v0.27 FGA Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Thrombophilia with a likely monogenic cause v0.27 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Thrombophilia with a likely monogenic cause v0.27 F2 Louise Daugherty Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2
Thrombophilia with a likely monogenic cause v0.27 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Intellectual disability v2.639 KARS Ivone Leong Publications for gene: KARS were set to
Thrombophilia with a likely monogenic cause v0.25 THBD Louise Daugherty Source Yorkshire and North East GLH was added to THBD.
Thrombophilia with a likely monogenic cause v0.25 SERPINE1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.25 SERPIND1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPIND1.
Thrombophilia with a likely monogenic cause v0.25 SERPINC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINC1.
Thrombophilia with a likely monogenic cause v0.25 PROS1 Louise Daugherty Source Yorkshire and North East GLH was added to PROS1.
Thrombophilia with a likely monogenic cause v0.25 PROCR Louise Daugherty Source Yorkshire and North East GLH was added to PROCR.
Thrombophilia with a likely monogenic cause v0.25 PROC Louise Daugherty Source Yorkshire and North East GLH was added to PROC.
Thrombophilia with a likely monogenic cause v0.25 PLG Louise Daugherty Source Yorkshire and North East GLH was added to PLG.
Thrombophilia with a likely monogenic cause v0.25 PLAT Louise Daugherty Source Yorkshire and North East GLH was added to PLAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.25 PIGA Louise Daugherty Source Yorkshire and North East GLH was added to PIGA.
Thrombophilia with a likely monogenic cause v0.25 HRG Louise Daugherty Source Yorkshire and North East GLH was added to HRG.
Thrombophilia with a likely monogenic cause v0.25 FGG Louise Daugherty Source Yorkshire and North East GLH was added to FGG.
Thrombophilia with a likely monogenic cause v0.25 FGB Louise Daugherty Source Yorkshire and North East GLH was added to FGB.
Thrombophilia with a likely monogenic cause v0.25 FGA Louise Daugherty Source Yorkshire and North East GLH was added to FGA.
Thrombophilia with a likely monogenic cause v0.25 F5 Louise Daugherty Source Yorkshire and North East GLH was added to F5.
Thrombophilia with a likely monogenic cause v0.25 F2 Louise Daugherty Source Yorkshire and North East GLH was added to F2.
Thrombophilia with a likely monogenic cause v0.25 ADAMTS13 Louise Daugherty Source Yorkshire and North East GLH was added to ADAMTS13.
Thoracic aortic aneurysm or dissection v1.84 TGFBR2 James Eden reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16928994; Phenotypes: Loeys Dietz syndrome, type 2 (610168); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 TGFBR1 James Eden reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16928994; Phenotypes: Loeys Dietz syndrome, type 1A (609192); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 TGFB2 James Eden reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29392890; Phenotypes: Loeys-Dietz syndrome 4 (614816); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 SMAD3 James Eden reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21217753, 29392890; Phenotypes: Loeys Dietz syndrome, type 3 (613795) ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 SKI James Eden reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023332; Phenotypes: Shprintzen-Goldberg syndrome (182212); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 MYLK James Eden reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 21055718; Phenotypes: Aortic aneurysm, familial thoracic 7 (613780); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 MYH11 James Eden reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27081537; Phenotypes: Aortic aneurysm, familial thoracic 4 (132900) ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 FBN1 James Eden reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20082464; Phenotypes: Acromicric dysplasia (102370), Ectopia lentis, familial (129600), Geleophysic dysplasia 2 (614185), Marfan lipodystrophy syndrome (616914), Marfan syndrome (154700), MASS syndrome (604308), Stiff skin syndrome (184900), Weill-Marchesani syndrome 2, dominant, (608328); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 COL3A1 James Eden reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25758994; Phenotypes: Ehlers-Danlos syndrome, vascular type (130050); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.84 ACTA2 James Eden reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17994018; Phenotypes: Aortic aneurysm, familial thoracic 6 (611788), Moyamoya disease 5 (614042), Multisystemic smooth muscle dysfunction syndrome (613834); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 TRPM4 James Eden reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Progressive familial heart block, type IB (604559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SNTA1 James Eden reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome 12 (612955); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22490985, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 10 (614022), Brugada syndrome 1 (601144), Cardiomyopathy, dilated, 1E (601154), Heart block, nonprogressive (113900), Heart block, progressive, type IA (113900), Long QT syndrome-3 (603830), Sick sinus syndrome 1 (608567), Ventricular fibrillation, familial, 1 (603829), {Sudden infant death syndrome, susceptibility to} (272120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN4B James Eden reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN3B James Eden reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN1B James Eden reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 13 (615377), Brugada syndrome 5 (612838), Cardiac conduction defect, nonspecific (612838), Epilepsy, generalized, with febrile seizures plus, type 1 (604233), Epileptic encephalopathy, early infantile, 52 (617350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 SCN10A James Eden reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Episodic pain syndrome, familial, 2 (615551); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 RYR2 James Eden reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 PKP2 James Eden reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 KCNQ1 James Eden reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Long QT syndrome-1 (192500), Short QT syndrome 2 (609621), Jervell and Lange-Nielsen syndrome (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Short QT syndrome v1.4 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 KCNJ2 James Eden reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Andersen syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 KCNH2 James Eden reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16226079, 16301704; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 KCNE3 James Eden reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: 16301704; Phenotypes: ?Brugada syndrome 6 (613119); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 KCNE2 James Eden reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16301704; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 KCNE1 James Eden reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168993, 16301704; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Short QT syndrome v1.4 HCN4 James Eden reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 8 (613123), Sick sinus syndrome 2 (163800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 GPD1L James Eden reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 2 (611777); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 CALM1 James Eden reviewed gene: CALM1: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome 14 (616247), Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 CACNB2 James Eden reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 4 (611876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 CACNA2D1 James Eden reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 CACNA1C James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24291113, 16301704; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 ANK2 James Eden reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Cardiac arrhythmia, ankyrin-B-related (600919), Long QT syndrome 4 (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Short QT syndrome v1.4 AKAP9 James Eden reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome-11 (611820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Short QT syndrome v1.4 ABCC9 James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 SNTA1 James Eden reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: ; Publications: 19684871; Phenotypes: Long QT syndrome 12 (612955); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Atrial fibrillation, familial, 10 (614022), Brugada syndrome 1 (601144), Cardiomyopathy, dilated, 1E (601154), Heart block, nonprogressive (113900), Heart block, progressive, type IA (113900), Long QT syndrome-3 (603830), Sick sinus syndrome 1 (608567), Ventricular fibrillation, familial, 1 (603829), {Sudden infant death syndrome, susceptibility to} (272120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 SCN4B James Eden reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: 17592081; Phenotypes: Long QT syndrome-10 (611819); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 KCNQ1 James Eden reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome-1 (192500), Short QT syndrome 2 (609621), Jervell and Lange-Nielsen syndrome (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.13 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 KCNJ2 James Eden reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Andersen syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 KCNH2 James Eden reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 KCNE2 James Eden reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 KCNE1 James Eden reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.13 CACNA1C James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18250309; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 ANK2 James Eden reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 AKAP9 James Eden reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 25087618; Phenotypes: Long QT syndrome-11 (611820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 VCL James Eden reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TPM1 James Eden reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Y (611878), Cardiomyopathy, hypertrophic, 3 (115196), Left ventricular noncompaction 9 ( 611878); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TNNT2 James Eden reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1D (601494), Cardiomyopathy, familial restrictive, 3 (612422), Cardiomyopathy, hypertrophic, 2 (115195), Left ventricular noncompaction 6 (601494); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TNNI3 James Eden reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 2A (611880), Cardiomyopathy, dilated, 1FF (613286), Cardiomyopathy, familial restrictive, 1 (115210), Cardiomyopathy, hypertrophic, 7 (613690); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TNNC1 James Eden reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Z (611879), Cardiomyopathy, hypertrophic, 13 (613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TCAP James Eden reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: 15582318, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 25 (607487), Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 SLC25A4 James Eden reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: 25732997, 27532257; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184), Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 PRKAG2 James Eden reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257, 28369730; Phenotypes: Cardiomyopathy, familial hypertrophic 6 (600858), Glycogen storage disease of heart, lethal congenital (261740), Wolff-Parkinson-White syndrome (194200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 PLN James Eden reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1P (609909), Cardiomyopathy, hypertrophic, 18 (613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 NEXN James Eden reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20970104, 27532257; Phenotypes: Cardiomyopathy, dilated, 1CC (613122), Cardiomyopathy, hypertrophic, 20 (613876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYLK2 James Eden reviewed gene: MYLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic (192600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYL3 James Eden reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, familial hypertrophic, 8 (608751); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYL2 James Eden reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, familial hypertrophic, 10 (608758); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1S (613426), Cardiomyopathy, hypertrophic, 1 (192600), Laing distal myopathy (160500), Left ventricular noncompaction 5 (613426), Myopathy, myosin storage, autosomal dominant (608358), Myopathy, myosin storage, autosomal recessive (255160), Scapuloperoneal syndrome, myopathic type (181430); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYH6 James Eden reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 22194935, 27532257; Phenotypes: Atrial septal defect 3 (614089), Cardiomyopathy, dilated, 1EE (613252), Cardiomyopathy, hypertrophic, 14 (613251), {Sick sinus syndrome 3} (614090); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYBPC3 James Eden reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1MM (615396), Cardiomyopathy, hypertrophic, 4 (115197), Left ventricular noncompaction 10 (615396); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 LAMP2 James Eden reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Danon disease (300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 GLA James Eden reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Fabry disease (301500), Fabry disease, cardiac variant (301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 FHL1 James Eden reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Uruguay faciocardiomusculoskeletal syndrome (300280), Emery-Dreifuss muscular dystrophy 6, X-linked (300696), Myopathy, X-linked, with postural muscle atrophy (300696), Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717), Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718), Scapuloperoneal myopathy, X-linked dominant (300695); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 CSRP3 James Eden reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 1M (607482), Cardiomyopathy, hypertrophic, 12 (612124); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 ACTC1 James Eden reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Atrial septal defect 5 (612794), Cardiomyopathy, dilated, 1R (613424), Cardiomyopathy, hypertrophic, 11 (612098), Left ventricular noncompaction 4 (613424); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 VCL James Eden reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TTN James Eden reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1G (604145), Cardiomyopathy, familial hypertrophic, 9 (613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807), Myopathy, proximal, with early respiratory muscle involvement (603689), Salih myopathy (611705), Tibial muscular dystrophy, tardive (600334); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TPM1 James Eden reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Y (611878), Cardiomyopathy, hypertrophic, 3 (115196), Left ventricular noncompaction 9 ( 611878); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TNNT2 James Eden reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1D (601494), Cardiomyopathy, familial restrictive, 3 (612422), Cardiomyopathy, hypertrophic, 2 (115195), Left ventricular noncompaction 6 (601494); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TNNI3 James Eden reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 2A (611880), Cardiomyopathy, dilated, 1FF (613286), Cardiomyopathy, familial restrictive, 1 (115210), Cardiomyopathy, hypertrophic, 7 (613690); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TNNC1 James Eden reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Z (611879), Cardiomyopathy, hypertrophic, 13 (613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TMPO James Eden reviewed gene: TMPO: Rating: RED; Mode of pathogenicity: ; Publications: 16247757, 20186049, 27532257; Phenotypes: Dilated Cardiomyopathy, Dominant ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 TCAP James Eden reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: 15582318, 20186049, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 25 (607487), Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 SGCD James Eden reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: 19259135, 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1L (606685), Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1E; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 RBM20 James Eden reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1DD (613172); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 PLN James Eden reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1P (609909), Cardiomyopathy, hypertrophic, 18 (613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 NEXN James Eden reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 19881492, 27532257; Phenotypes: Cardiomyopathy, dilated, 1CC (613122), Cardiomyopathy, hypertrophic, 20 (613876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 MYH7 James Eden reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1S (613426), Cardiomyopathy, hypertrophic, 1 (192600), Laing distal myopathy (160500), Left ventricular noncompaction 5 (613426), Myopathy, myosin storage, autosomal dominant (608358), Myopathy, myosin storage, autosomal recessive (255160), Scapuloperoneal syndrome, myopathic type (181430); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 MYH6 James Eden reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 15998695, 27532257; Phenotypes: Atrial septal defect 3 (614089), Cardiomyopathy, dilated, 1EE (613252), Cardiomyopathy, hypertrophic, 14 (613251), {Sick sinus syndrome 3} (614090); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 MYBPC3 James Eden reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1MM (615396), Cardiomyopathy, hypertrophic, 4 (115197), Left ventricular noncompaction 10 (615396); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 LMNA James Eden reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1A (115200), Charcot-Marie-Tooth disease, type 2B1 (605588), Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350), Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516), Heart-hand syndrome, Slovenian type (610140), Hutchinson-Gilford progeria (176670), Lipodystrophy, familial partial, type 2 (151660), Malouf syndrome (212112), Mandibuloacral dysplasia (248370), Muscular dystrophy, congenital (613205), Restrictive dermopathy, lethal (275210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 EYA4 James Eden reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: ; Publications: 15735644, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 1J (605362), Deafness, autosomal dominant 10 (601316); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 DES James Eden reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: 20186049, 27532257; Phenotypes: Cardiomyopathy, dilated, 1I, (604765), Myopathy, myofibrillar, 1 (601419), Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 CSRP3 James Eden reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: ; Publications: 18505755, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 1M (607482), Cardiomyopathy, hypertrophic, 12 (612124); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 ACTN2 James Eden reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26312134, 25224718, 27532257; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC (612158), Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 ACTC1 James Eden reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: ; Publications: 26061005, 27532257; Phenotypes: Atrial septal defect 5 (612794), Cardiomyopathy, dilated, 1R (613424), Cardiomyopathy, hypertrophic, 11 (612098), Left ventricular noncompaction 4 (613424); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy and conduction defects v1.44 ABCC9 James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 15034580, 27532257; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 TRDN James Eden reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 26200674; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 RYR2 James Eden reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19121813, 27761157; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 KCNJ2 James Eden reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: 27761157; Phenotypes: Andersen syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 CASQ2 James Eden reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19121813, 27761157; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.6 CALM1 James Eden reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19121813, 27761157; Phenotypes: Long QT syndrome 14 (616247), Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 TRPM4 James Eden reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 23382873, 27761167; Phenotypes: Progressive familial heart block, type IB (604559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27761167, 20031634; Phenotypes: Brugada syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 SCN3B James Eden reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: ; Publications: 23257389, 27761167; Phenotypes: Atrial fibrillation, familial, 16 (613120), Brugada syndrome 7 (613120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 SCN1B James Eden reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: 25253298, 27761167; Phenotypes: Atrial fibrillation, familial, 13 (615377), Brugada syndrome 5 (612838), Cardiac conduction defect, nonspecific (612838), Epilepsy, generalized, with febrile seizures plus, type 1 (604233), Epileptic encephalopathy, early infantile, 52 (617350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 SCN10A James Eden reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: 24998131, 27761167; Phenotypes: Episodic pain syndrome, familial, 2 (615551); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 PKP2 James Eden reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 27085656, 27761167; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 KCNE3 James Eden reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: 19122847, 27761167; Phenotypes: ?Brugada syndrome 6 (613119); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 HCN4 James Eden reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: 27761167; Phenotypes: Brugada syndrome 8 (613123), Sick sinus syndrome 2 (163800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 GPD1L James Eden reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: 19666841, 27761167; Phenotypes: Brugada syndrome 2 (611777); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 CACNB2 James Eden reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: 17224476, 27761167; Phenotypes: Brugada syndrome 4 (611876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 CACNA2D1 James Eden reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 20817017, 17224476, 27761167; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 ANK2 James Eden reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 27818464, 27761167; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.19 ABCC9 James Eden reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: 24439875, 27761167; Phenotypes: Atrial fibrillation, familial, 12 (614050), Cardiomyopathy, dilated, 1O (608569); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.17 TMEM43 James Eden reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812740, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 (604400), Emery-Dreifuss muscular dystrophy 7, AD (614302); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.17 PKP2 James Eden reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.17 JUP James Eden reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 (611528), Naxos disease (601214); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.17 DSP James Eden reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 8 (607450), Cardiomyopathy, dilated, with woolly hair and keratoderma (605676), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821), Epidermolysis bullosa, lethal acantholytic (609638), Keratosis palmoplantaris striata II (612908), Skin fragility-woolly hair syndrome (607655); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.17 DSG2 James Eden reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (610193), Cardiomyopathy, dilated, 1BB (612877); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.17 DSC2 James Eden reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 11 (610476), Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.638 INTS1 Ivone Leong Classified gene: INTS1 as Green List (high evidence)
Intellectual disability v2.638 INTS1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the new evidence provided by Konstantinos Varvagiannis (Other).
Intellectual disability v2.638 INTS1 Ivone Leong Gene: ints1 has been classified as Green List (High Evidence).
Intellectual disability v2.637 INTS1 Ivone Leong Phenotypes for gene: INTS1 were changed from Hypotonia; Global developmental delay; Cataract; Abnormality of the skeletal system to Hypotonia; Global developmental delay; Cataract; Abnormality of the skeletal system
Intellectual disability v2.636 INTS1 Ivone Leong Phenotypes for gene: INTS1 were changed from to Hypotonia; Global developmental delay; Cataract; Abnormality of the skeletal system
Intellectual disability v2.635 INTS1 Ivone Leong Publications for gene: INTS1 were set to 28542170
Thoracic aortic aneurysm or dissection v1.83 TGFBR2 Ellen McDonagh Source North West GLH was added to TGFBR2.
Added phenotypes Loeys Dietz syndrome, type 2 (610168) for gene: TGFBR2
Publications for gene TGFBR2 were changed from to 16928994
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 TGFBR1 Ellen McDonagh Source North West GLH was added to TGFBR1.
Added phenotypes Loeys Dietz syndrome, type 1A (609192) for gene: TGFBR1
Publications for gene TGFBR1 were changed from to 16928994
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 TGFB2 Ellen McDonagh Source North West GLH was added to TGFB2.
Added phenotypes Loeys-Dietz syndrome 4 (614816) for gene: TGFB2
Publications for gene TGFB2 were changed from 22772368; 22772371 to 29392890
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 SMAD3 Ellen McDonagh Source North West GLH was added to SMAD3.
Added phenotypes Loeys Dietz syndrome, type 3 (613795) for gene: SMAD3
Publications for gene SMAD3 were changed from to 21217753; 29392890
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 SKI Ellen McDonagh Source North West GLH was added to SKI.
Added phenotypes Shprintzen-Goldberg syndrome (182212) for gene: SKI
Publications for gene SKI were changed from 23023332; 23103230; 24736733; 27146836 to 23023332
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 MYLK Ellen McDonagh Source North West GLH was added to MYLK.
Added phenotypes Aortic aneurysm, familial thoracic 7 (613780) for gene: MYLK
Publications for gene MYLK were changed from to 21055718
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 MYH11 Ellen McDonagh Source North West GLH was added to MYH11.
Added phenotypes Aortic aneurysm, familial thoracic 4 (132900) for gene: MYH11
Publications for gene MYH11 were changed from to 27081537
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 FBN1 Ellen McDonagh Source North West GLH was added to FBN1.
Added phenotypes Ectopia lentis, familial (129600); Marfan syndrome (154700); Marfan lipodystrophy syndrome (616914); Weill-Marchesani syndrome 2, dominant, (608328); Acromicric dysplasia (102370); Stiff skin syndrome (184900); MASS syndrome (604308); Geleophysic dysplasia 2 (614185) for gene: FBN1
Publications for gene FBN1 were changed from to 20082464
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 COL3A1 Ellen McDonagh Source North West GLH was added to COL3A1.
Added phenotypes Ehlers-Danlos syndrome, vascular type (130050) for gene: COL3A1
Publications for gene COL3A1 were changed from to 25758994
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.83 ACTA2 Ellen McDonagh Source North West GLH was added to ACTA2.
Added phenotypes Moyamoya disease 5 (614042); Multisystemic smooth muscle dysfunction syndrome (613834); Aortic aneurysm, familial thoracic 6 (611788) for gene: ACTA2
Publications for gene ACTA2 were changed from to 17994018
Rating Changed from Green List (high evidence) to Green List (high evidence)
Short QT syndrome v1.3 TRPM4 Ellen McDonagh Source North West GLH was added to TRPM4.
Added phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4
Publications for gene TRPM4 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SNTA1 Ellen McDonagh Source North West GLH was added to SNTA1.
Added phenotypes Long QT syndrome 12 (612955) for gene: SNTA1
Publications for gene SNTA1 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A
Publications for gene SCN5A were changed from 22490985; 29697308 to 16301704; 30420954; 22490985
Short QT syndrome v1.3 SCN4B Ellen McDonagh Source North West GLH was added to SCN4B.
Publications for gene SCN4B were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN3B Ellen McDonagh Source North West GLH was added to SCN3B.
Publications for gene SCN3B were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN1B Ellen McDonagh Source North West GLH was added to SCN1B.
Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B
Publications for gene SCN1B were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 SCN10A Ellen McDonagh Source North West GLH was added to SCN10A.
Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A
Publications for gene SCN10A were changed from 30177317; 29016797 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 RYR2 Ellen McDonagh Source North West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2
Publications for gene RYR2 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 PKP2 Ellen McDonagh Source North West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2
Publications for gene PKP2 were changed from 24352520; 26888179 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 KCNQ1 Ellen McDonagh Source North West GLH was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1
Publications for gene KCNQ1 were changed from 15159330; 16109388; 26168993; 26346102; 25974115; 29697308 to 16226079; 16301704
Short QT syndrome v1.3 KCNJ5 Ellen McDonagh Source North West GLH was added to KCNJ5.
Added phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5
Publications for gene KCNJ5 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 KCNJ2 Ellen McDonagh Source North West GLH was added to KCNJ2.
Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2
Publications for gene KCNJ2 were changed from 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 to 16226079; 16301704
Short QT syndrome v1.3 KCNH2 Ellen McDonagh Source North West GLH was added to KCNH2.
Added phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2
Publications for gene KCNH2 were changed from 14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299 to 16226079; 16301704
Short QT syndrome v1.3 KCNE3 Ellen McDonagh Source North West GLH was added to KCNE3.
Added phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3
Publications for gene KCNE3 were changed from to 16301704
Short QT syndrome v1.3 KCNE2 Ellen McDonagh Source North West GLH was added to KCNE2.
Added phenotypes Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493) for gene: KCNE2
Publications for gene KCNE2 were changed from to 16301704
Short QT syndrome v1.3 KCNE1 Ellen McDonagh Source North West GLH was added to KCNE1.
Added phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1
Publications for gene KCNE1 were changed from to 16301704; 26168993
Short QT syndrome v1.3 HCN4 Ellen McDonagh Source North West GLH was added to HCN4.
Added phenotypes Sick sinus syndrome 2 (163800); Brugada syndrome 8 (613123) for gene: HCN4
Publications for gene HCN4 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 GPD1L Ellen McDonagh Source North West GLH was added to GPD1L.
Added phenotypes Brugada syndrome 2 (611777) for gene: GPD1L
Publications for gene GPD1L were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CALM1 Ellen McDonagh Source North West GLH was added to CALM1.
Added phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1
Publications for gene CALM1 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CACNB2 Ellen McDonagh Source North West GLH was added to CACNB2.
Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2
Publications for gene CACNB2 were changed from 17224476; 30027834; 29759541 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CACNA2D1 Ellen McDonagh Source North West GLH was added to CACNA2D1.
Publications for gene CACNA2D1 were changed from 21383000; 29759541; 29697308 to 30420954; 19862833; 16301704
Short QT syndrome v1.3 CACNA1C Ellen McDonagh Source North West GLH was added to CACNA1C.
Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C
Publications for gene CACNA1C were changed from 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704
Short QT syndrome v1.3 ANK2 Ellen McDonagh Source North West GLH was added to ANK2.
Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2
Publications for gene ANK2 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 AKAP9 Ellen McDonagh Source North West GLH was added to AKAP9.
Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9
Publications for gene AKAP9 were changed from to 30420954; 19862833; 16301704
Short QT syndrome v1.3 ABCC9 Ellen McDonagh Source North West GLH was added to ABCC9.
Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9
Publications for gene ABCC9 were changed from 21383000; 15569843; 27283775 to 30420954; 19862833; 16301704
Long QT syndrome v1.12 SNTA1 Ellen McDonagh Source North West GLH was added to SNTA1.
Added phenotypes Long QT syndrome 12 (612955) for gene: SNTA1
Publications for gene SNTA1 were changed from to 19684871
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A
Publications for gene SCN5A were changed from 7889574; doi:10.​1007/​s12265-016-9673-5; 28391114 to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 SCN4B Ellen McDonagh Source North West GLH was added to SCN4B.
Added phenotypes Long QT syndrome-10 (611819) for gene: SCN4B
Publications for gene SCN4B were changed from PMID: 17592081 to 17592081
Long QT syndrome v1.12 KCNQ1 Ellen McDonagh Source North West GLH was added to KCNQ1.
Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1
Publications for gene KCNQ1 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNJ5 Ellen McDonagh Source North West GLH was added to KCNJ5.
Added phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5
Publications for gene KCNJ5 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNJ2 Ellen McDonagh Source North West GLH was added to KCNJ2.
Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2
Publications for gene KCNJ2 were changed from 12163457 to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNH2 Ellen McDonagh Source North West GLH was added to KCNH2.
Added phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2
Publications for gene KCNH2 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNE2 Ellen McDonagh Source North West GLH was added to KCNE2.
Added phenotypes Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493) for gene: KCNE2
Publications for gene KCNE2 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNE1 Ellen McDonagh Source North West GLH was added to KCNE1.
Added phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1
Publications for gene KCNE1 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 CACNA1C Ellen McDonagh Source North West GLH was added to CACNA1C.
Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C
Publications for gene CACNA1C were changed from 15454078 to 18250309
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 ANK2 Ellen McDonagh Source North West GLH was added to ANK2.
Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2
Publications for gene ANK2 were changed from to 12571597
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 AKAP9 Ellen McDonagh Source North West GLH was added to AKAP9.
Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9
Publications for gene AKAP9 were changed from 18093912 to 25087618
Hypertrophic cardiomyopathy v1.41 VCL Ellen McDonagh Source North West GLH was added to VCL.
Mode of inheritance for gene VCL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255) for gene: VCL
Publications for gene VCL were changed from to 27532257; 28369730
Hypertrophic cardiomyopathy v1.41 TPM1 Ellen McDonagh Source North West GLH was added to TPM1.
Added phenotypes Left ventricular noncompaction 9 ( 611878); Cardiomyopathy, hypertrophic, 3 (115196); Cardiomyopathy, dilated, 1Y (611878) for gene: TPM1
Publications for gene TPM1 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TNNT2 Ellen McDonagh Source North West GLH was added to TNNT2.
Added phenotypes Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Left ventricular noncompaction 6 (601494); Cardiomyopathy, dilated, 1D (601494) for gene: TNNT2
Publications for gene TNNT2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TNNI3 Ellen McDonagh Source North West GLH was added to TNNI3.
Mode of inheritance for gene TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 7 (613690); ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210) for gene: TNNI3
Publications for gene TNNI3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TNNC1 Ellen McDonagh Source North West GLH was added to TNNC1.
Added phenotypes Cardiomyopathy, dilated, 1Z (611879); Cardiomyopathy, hypertrophic, 13 (613243) for gene: TNNC1
Publications for gene TNNC1 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TCAP Ellen McDonagh Source North West GLH was added to TCAP.
Added phenotypes Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) for gene: TCAP
Publications for gene TCAP were changed from to 15582318; 27532257
Hypertrophic cardiomyopathy v1.41 SLC25A4 Ellen McDonagh Source North West GLH was added to SLC25A4.
Mode of inheritance for gene SLC25A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) for gene: SLC25A4
Publications for gene SLC25A4 were changed from to 25732997; 27532257
Hypertrophic cardiomyopathy v1.41 PRKAG2 Ellen McDonagh Source North West GLH was added to PRKAG2.
Added phenotypes Wolff-Parkinson-White syndrome (194200); Cardiomyopathy, familial hypertrophic 6 (600858); Glycogen storage disease of heart, lethal congenital (261740) for gene: PRKAG2
Publications for gene PRKAG2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 PLN Ellen McDonagh Source North West GLH was added to PLN.
Added phenotypes Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) for gene: PLN
Publications for gene PLN were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 NEXN Ellen McDonagh Source North West GLH was added to NEXN.
Added phenotypes Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876) for gene: NEXN
Publications for gene NEXN were changed from to 27532257; 20970104
Hypertrophic cardiomyopathy v1.41 MYLK2 Ellen McDonagh Source North West GLH was added to MYLK2.
Added phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) for gene: MYLK2
Publications for gene MYLK2 were changed from to 27532257; 28369730
Hypertrophic cardiomyopathy v1.41 MYL3 Ellen McDonagh Source North West GLH was added to MYL3.
Added phenotypes Cardiomyopathy, familial hypertrophic, 8 (608751) for gene: MYL3
Publications for gene MYL3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 MYL2 Ellen McDonagh Source North West GLH was added to MYL2.
Added phenotypes Cardiomyopathy, familial hypertrophic, 10 (608758) for gene: MYL2
Publications for gene MYL2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 MYH7 Ellen McDonagh Source North West GLH was added to MYH7.
Added phenotypes Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430) for gene: MYH7
Publications for gene MYH7 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 MYH6 Ellen McDonagh Source North West GLH was added to MYH6.
Added phenotypes Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Cardiomyopathy, hypertrophic, 14 (613251); Atrial septal defect 3 (614089) for gene: MYH6
Publications for gene MYH6 were changed from 30531895; 28082330 to 27532257; 22194935
Hypertrophic cardiomyopathy v1.41 MYBPC3 Ellen McDonagh Source North West GLH was added to MYBPC3.
Added phenotypes Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396) for gene: MYBPC3
Publications for gene MYBPC3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 LAMP2 Ellen McDonagh Source North West GLH was added to LAMP2.
Added phenotypes Danon disease (300257) for gene: LAMP2
Publications for gene LAMP2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 GLA Ellen McDonagh Source North West GLH was added to GLA.
Added phenotypes Fabry disease, cardiac variant (301500); Fabry disease (301500) for gene: GLA
Publications for gene GLA were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 FHL1 Ellen McDonagh Source North West GLH was added to FHL1.
Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); ?Uruguay faciocardiomusculoskeletal syndrome (300280); Scapuloperoneal myopathy, X-linked dominant (300695); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Emery-Dreifuss muscular dystrophy 6, X-linked (300696) for gene: FHL1
Publications for gene FHL1 were changed from http://www.ncbi.nlm.nih.gov/pubmed/22523091 to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 CSRP3 Ellen McDonagh Source North West GLH was added to CSRP3.
Added phenotypes Cardiomyopathy, hypertrophic, 12 (612124); ?Cardiomyopathy, dilated, 1M (607482) for gene: CSRP3
Publications for gene CSRP3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 ACTC1 Ellen McDonagh Source North West GLH was added to ACTC1.
Added phenotypes Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, hypertrophic, 11 (612098); Atrial septal defect 5 (612794) for gene: ACTC1
Publications for gene ACTC1 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 VCL Ellen McDonagh Source North West GLH was added to VCL.
Added phenotypes Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255) for gene: VCL
Publications for gene VCL were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TTN Ellen McDonagh Source North West GLH was added to TTN.
Added phenotypes Tibial muscular dystrophy, tardive (600334); Myopathy, proximal, with early respiratory muscle involvement (603689); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, familial hypertrophic, 9 (613765); Salih myopathy (611705); Cardiomyopathy, dilated, 1G (604145) for gene: TTN
Publications for gene TTN were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TPM1 Ellen McDonagh Source North West GLH was added to TPM1.
Added phenotypes Left ventricular noncompaction 9 ( 611878); Cardiomyopathy, hypertrophic, 3 (115196); Cardiomyopathy, dilated, 1Y (611878) for gene: TPM1
Publications for gene TPM1 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TNNT2 Ellen McDonagh Source North West GLH was added to TNNT2.
Added phenotypes Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Left ventricular noncompaction 6 (601494); Cardiomyopathy, dilated, 1D (601494) for gene: TNNT2
Publications for gene TNNT2 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TNNI3 Ellen McDonagh Source North West GLH was added to TNNI3.
Added phenotypes Cardiomyopathy, hypertrophic, 7 (613690); ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210) for gene: TNNI3
Publications for gene TNNI3 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TNNC1 Ellen McDonagh Source North West GLH was added to TNNC1.
Added phenotypes Cardiomyopathy, dilated, 1Z (611879); Cardiomyopathy, hypertrophic, 13 (613243) for gene: TNNC1
Publications for gene TNNC1 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 TMPO Ellen McDonagh Source North West GLH was added to TMPO.
Added phenotypes Dilated Cardiomyopathy, Dominant for gene: TMPO
Publications for gene TMPO were changed from to 16247757; 27532257; 20186049
Dilated Cardiomyopathy and conduction defects v1.43 TCAP Ellen McDonagh Source North West GLH was added to TCAP.
Added phenotypes Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) for gene: TCAP
Publications for gene TCAP were changed from to 27532257; 15582318; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 SGCD Ellen McDonagh Source North West GLH was added to SGCD.
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287); Cardiomyopathy, dilated, 1L (606685) for gene: SGCD
Publications for gene SGCD were changed from to 27532257; 20186049; 19259135
Dilated Cardiomyopathy and conduction defects v1.43 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Cardiomyopathy, dilated, 1E for gene: SCN5A
Publications for gene SCN5A were changed from 28391114 to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 RBM20 Ellen McDonagh Source North West GLH was added to RBM20.
Added phenotypes Cardiomyopathy, dilated, 1DD (613172) for gene: RBM20
Publications for gene RBM20 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 PLN Ellen McDonagh Source North West GLH was added to PLN.
Added phenotypes Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) for gene: PLN
Publications for gene PLN were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 NEXN Ellen McDonagh Source North West GLH was added to NEXN.
Added phenotypes Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876) for gene: NEXN
Publications for gene NEXN were changed from to 27532257; 19881492
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 MYH7 Ellen McDonagh Source North West GLH was added to MYH7.
Added phenotypes Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430) for gene: MYH7
Publications for gene MYH7 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 MYH6 Ellen McDonagh Source North West GLH was added to MYH6.
Added phenotypes Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Cardiomyopathy, hypertrophic, 14 (613251); Atrial septal defect 3 (614089) for gene: MYH6
Publications for gene MYH6 were changed from to 15998695; 27532257
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 MYBPC3 Ellen McDonagh Source North West GLH was added to MYBPC3.
Added phenotypes Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396) for gene: MYBPC3
Publications for gene MYBPC3 were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 LMNA Ellen McDonagh Source North West GLH was added to LMNA.
Added phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350); Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516); Lipodystrophy, familial partial, type 2 (151660); Malouf syndrome (212112); Cardiomyopathy, dilated, 1A (115200); Mandibuloacral dysplasia (248370); Hutchinson-Gilford progeria (176670); Muscular dystrophy, congenital (613205); Heart-hand syndrome, Slovenian type (610140); Restrictive dermopathy, lethal (275210); Charcot-Marie-Tooth disease, type 2B1 (605588) for gene: LMNA
Publications for gene LMNA were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 EYA4 Ellen McDonagh Source North West GLH was added to EYA4.
Added phenotypes ?Cardiomyopathy, dilated, 1J (605362); Deafness, autosomal dominant 10 (601316) for gene: EYA4
Publications for gene EYA4 were changed from to 27532257; 15735644
Dilated Cardiomyopathy and conduction defects v1.43 DES Ellen McDonagh Source North West GLH was added to DES.
Added phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400); Cardiomyopathy, dilated, 1I, (604765); Myopathy, myofibrillar, 1 (601419) for gene: DES
Publications for gene DES were changed from to 27532257; 20186049
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 CSRP3 Ellen McDonagh Source North West GLH was added to CSRP3.
Added phenotypes Cardiomyopathy, hypertrophic, 12 (612124); ?Cardiomyopathy, dilated, 1M (607482) for gene: CSRP3
Publications for gene CSRP3 were changed from to 27532257; 18505755
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 ACTN2 Ellen McDonagh Source North West GLH was added to ACTN2.
Added phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC (612158); Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) for gene: ACTN2
Publications for gene ACTN2 were changed from to 27532257; 25224718; 26312134
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 ACTC1 Ellen McDonagh Source North West GLH was added to ACTC1.
Added phenotypes Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, hypertrophic, 11 (612098); Atrial septal defect 5 (612794) for gene: ACTC1
Publications for gene ACTC1 were changed from to 27532257; 26061005
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.43 ABCC9 Ellen McDonagh Source North West GLH was added to ABCC9.
Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9
Publications for gene ABCC9 were changed from to 27532257; 15034580
Catecholaminergic polymorphic VT v1.5 TRDN Ellen McDonagh Source North West GLH was added to TRDN.
Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441) for gene: TRDN
Publications for gene TRDN were changed from to 26200674
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.5 RYR2 Ellen McDonagh Source North West GLH was added to RYR2.
Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2
Publications for gene RYR2 were changed from to 27761157; 19121813
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.5 KCNJ2 Ellen McDonagh Source North West GLH was added to KCNJ2.
Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2
Publications for gene KCNJ2 were changed from to 27761157
Catecholaminergic polymorphic VT v1.5 CASQ2 Ellen McDonagh Source North West GLH was added to CASQ2.
Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938) for gene: CASQ2
Publications for gene CASQ2 were changed from to 27761157; 19121813
Rating Changed from Green List (high evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.5 CALM1 Ellen McDonagh Source North West GLH was added to CALM1.
Added phenotypes Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) for gene: CALM1
Publications for gene CALM1 were changed from to 27761157; 19121813
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 TRPM4 Ellen McDonagh Source North West GLH was added to TRPM4.
Added phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4
Publications for gene TRPM4 were changed from http://www.ncbi.nlm.nih.gov/pubmed/23382873 to 23382873; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Brugada syndrome 1 for gene: SCN5A
Publications for gene SCN5A were changed from 28391114 to 20031634; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 SCN3B Ellen McDonagh Source North West GLH was added to SCN3B.
Added phenotypes Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) for gene: SCN3B
Publications for gene SCN3B were changed from to 23257389; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 SCN1B Ellen McDonagh Source North West GLH was added to SCN1B.
Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B
Publications for gene SCN1B were changed from to 25253298; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 SCN10A Ellen McDonagh Source North West GLH was added to SCN10A.
Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A
Publications for gene SCN10A were changed from http://www.ncbi.nlm.nih.gov/pubmed/24998131 to 24998131; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 PKP2 Ellen McDonagh Source North West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2
Publications for gene PKP2 were changed from 24352520; doi:10.​1007/​s12265-016-9673-5 to 27085656; 27761167
Brugada syndrome and cardiac sodium channel disease v1.18 KCNE3 Ellen McDonagh Source North West GLH was added to KCNE3.
Added phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3
Publications for gene KCNE3 were changed from to 19122847; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 HCN4 Ellen McDonagh Source North West GLH was added to HCN4.
Added phenotypes Sick sinus syndrome 2 (163800); Brugada syndrome 8 (613123) for gene: HCN4
Publications for gene HCN4 were changed from to 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 GPD1L Ellen McDonagh Source North West GLH was added to GPD1L.
Added phenotypes Brugada syndrome 2 (611777) for gene: GPD1L
Publications for gene GPD1L were changed from to 27761167; 19666841
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 CACNB2 Ellen McDonagh Source North West GLH was added to CACNB2.
Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2
Publications for gene CACNB2 were changed from to 17224476; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.18 CACNA2D1 Ellen McDonagh Source North West GLH was added to CACNA2D1.
Mode of inheritance for gene CACNA2D1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene CACNA2D1 were changed from to 17224476; 20817017; 27761167
Brugada syndrome and cardiac sodium channel disease v1.18 ANK2 Ellen McDonagh Source North West GLH was added to ANK2.
Mode of inheritance for gene ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2
Publications for gene ANK2 were changed from to 27761167; 27818464
Brugada syndrome and cardiac sodium channel disease v1.18 ABCC9 Ellen McDonagh Source North West GLH was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiomyopathy, dilated, 1O (608569); Atrial fibrillation, familial, 12 (614050) for gene: ABCC9
Publications for gene ABCC9 were changed from 24439875; doi:10.​1007/​s12265-016-9673-5 to 27761167; 24439875
Arrhythmogenic right ventricular cardiomyopathy v1.16 TMEM43 Ellen McDonagh Source North West GLH was added to TMEM43.
Added phenotypes Emery-Dreifuss muscular dystrophy 7, AD (614302); Arrhythmogenic right ventricular dysplasia 5 (604400) for gene: TMEM43
Publications for gene TMEM43 were changed from to 27532257; 23812740
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.16 PKP2 Ellen McDonagh Source North West GLH was added to PKP2.
Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2
Publications for gene PKP2 were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.16 JUP Ellen McDonagh Source North West GLH was added to JUP.
Added phenotypes Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) for gene: JUP
Publications for gene JUP were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.16 DSP Ellen McDonagh Source North West GLH was added to DSP.
Added phenotypes Keratosis palmoplantaris striata II (612908); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8 (607450); Epidermolysis bullosa, lethal acantholytic (609638); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) for gene: DSP
Publications for gene DSP were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.16 DSG2 Ellen McDonagh Source North West GLH was added to DSG2.
Added phenotypes Cardiomyopathy, dilated, 1BB (612877); Arrhythmogenic right ventricular dysplasia 10 (610193) for gene: DSG2
Publications for gene DSG2 were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.16 DSC2 Ellen McDonagh Source North West GLH was added to DSC2.
Added phenotypes Arrhythmogenic right ventricular dysplasia 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) for gene: DSC2
Publications for gene DSC2 were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.42 ALMS1 Denise Williams gene: ALMS1 was added
gene: ALMS1 was added to Dilated cardiomyopathy - teen and adult. Sources: Literature
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to PMID: 2030; 1444
Phenotypes for gene: ALMS1 were set to cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy
Penetrance for gene: ALMS1 were set to Complete
Review for gene: ALMS1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability v2.634 SET Rebecca Foulger Classified gene: SET as Green List (high evidence)
Intellectual disability v2.634 SET Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Sufficient (>3) cases to support ID causation as noted in the review by Konstantinos Varvagiannis: 5 families (6 individuals) reported in PMID:29688601 (Stevens et al., 2018), plus 3 ID patients in the DDD study (PMID:28135719), including the variant found in the mother and son in PMID:29688601. Plus the large scale PMID:25356899 (Hamdan et al 2014) study.
Intellectual disability v2.634 SET Rebecca Foulger Gene: set has been classified as Green List (High Evidence).
Intellectual disability v2.633 SET Rebecca Foulger Phenotypes for gene: SET were changed from Intellectual disability; SET syndrome to Intellectual disability; SET syndrome; Mental retardation, autosomal dominant 58, 618106
Early onset or syndromic epilepsy v1.13 LSS Konstantinos Varvagiannis gene: LSS was added
gene: LSS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320
Phenotypes for gene: LSS were set to Alopecia; Abnormality of the skin; Hypotonia; Global developmental delay; Intellectual disability; Seizures; Abnormality of the genital system; Microcephaly
Penetrance for gene: LSS were set to unknown
Review for gene: LSS was set to AMBER
Added comment: Epilepsy was observed in at least 6 individuals from 4 unrelated families (7 different variants). However other individuals with biallelic LSS mutations and primarily neuroectodermal phenotype or others (hypotrichosis or congenital cataract) did not manifest seizures. As a result this gene can be considered for inclusion possibly as amber.

Copied from the ID panel (only the relevant publication included here):
DD and ID seem to be among the features observed in some individuals with biallelic LSS mutations, although the clinical presentation appears to be highly variable.

PMID: 30723320 [Besnrard et al, 2019] reports on 10 individuals from 6 unrelated families with biallelic LSS variants. One additional subject from a seventh family was found to harbor only a missense SNV (in the maternal allele) while the transcript corresponding to the other (/paternal) allele was less expressed upon RNA studies from patient fibroblasts. The allelic imbalance and the phenotypic overlap with the other individuals of the study were thought to be explained by an LSS defect.

The phenotype consisted of total alopecia (11/11) with additional dermatological features in most (9/11), hypotonia (7/11), DD with variable degrees of ID (11/11 both), epilepsy (8/11), microcephaly and genital anomalies in few. Cataracts were not noted in any individuals. The authors suggest that the phenotype corresponds to that observed in a neuroectodermal syndrome previously known as APMR (alopecia with mental retardation - other genes or loci earlier proposed).

Variants included: 7 missense SNVs, 1 nonsense, 1 frameshift, 2 splice variants (c.1109+2T>C / c.1194+5G>A - using NM_002340.5).

Using a minigene assay the latter variants were confirmhed (both) to affect splicing, at least to some important extent. However the splicing defect for one SNV (c.1194+5G>A - skipping of exon 12) was not confirmed upon RNA studies from blood samples of the respective individuals but an allelic balance in favor of the other allele instead (due to presumed utilisation of an alternative splice site, introduction of a premature stop codon and NMD).

Allelic imbalance is discussed for the individual with the single LSS variant but not shown.

Variants did not show clustering (also upon 3D modelling).

Lanosterol synthase converts (S)-2,3-oxidosqualene to lanosterol in the cholesterol biosynthesis pathway. Quantification of cholesterol and its precursors in affected individuals did not however reveal any important imbalance.

As most individuals harbored an allele with missense variant, and mice homozygous for an allele with absent LSS activity show variable lethality, residual LSS activity is suggested for the individuals studied.

Several other disorders affecting cholesterol biosynthesis present overlapping features eg. DD/ID in Lathosterolosis, Desmosterolosis, Smith-Lemli-Opitz syndrome (in this case also genital anomalies), etc or cutaneous anomalies in others.

A neurodevelopmental phenotype in animal models for LSS deficiency is not commented.
-----
Based on the discussion of the current article (and OMIM):

Earlier studies [PMIDs : 26200341, 29016354 - Zhao et al 2015 and Chen and Liu 2017 respectively] found biallelic missense in individuals with congenital cataracts. DD/ID were not commented/observed. The subject reported by Chen had baldness and genital defects. Shumiya cataract rats due to mutation in Lss gene recapitulate the specific human phenotype [PMID: 16440058 and OMIM]. Cataract was not a feature in any of the individuals of the present study. The corresponding entry for this phenotype in OMIM is Cataract 44 (#616509).

PMID: 30401459 [Romano et al, 2018] reported biallelic LSS mutations in 3 unrelated families with hypotrichosis. Intellectual disability was a feature in 2 sibs from 1 non-consanguineous family (among the three). ID was considered to be coincidental by the authors. The respective entry in OMIM is Hypotrichosis 14 (#618275).
Sources: Literature
Intellectual disability v2.632 LSS Konstantinos Varvagiannis gene: LSS was added
gene: LSS was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320; 30401459
Phenotypes for gene: LSS were set to Alopecia; Abnormality of the skin; Hypotonia; Global developmental delay; Intellectual disability; Seizures; Abnormality of the genital system; Microcephaly
Penetrance for gene: LSS were set to Complete
Review for gene: LSS was set to GREEN
Added comment: DD and ID seem to be among the features observed in some individuals with biallelic LSS mutations, although the clinical presentation appears to be highly variable.

PMID: 30723320 [Besnrard et al, 2019] reports on 10 individuals from 6 unrelated families with biallelic LSS variants. One additional subject from a seventh family was found to harbor only a missense SNV (in the maternal allele) while the transcript corresponding to the other (/paternal) allele was less expressed upon RNA studies from patient fibroblasts. The allelic imbalance and the phenotypic overlap with the other individuals of the study were thought to be explained by an LSS defect.

The phenotype consisted of total alopecia (11/11) with additional dermatological features in most (9/11), hypotonia (7/11), DD with variable degrees of ID (11/11 both), epilepsy (8/11), microcephaly and genital anomalies in few. Cataracts were not noted in any individuals. The authors suggest that the phenotype corresponds to that observed in a neuroectodermal syndrome previously known as APMR (alopecia with mental retardation - other genes or loci earlier proposed).

Variants included: 7 missense SNVs, 1 nonsense, 1 frameshift, 2 splice variants (c.1109+2T>C / c.1194+5G>A - using NM_002340.5).

Using a minigene assay the latter variants were confirmhed (both) to affect splicing, at least to some important extent. However the splicing defect for one SNV (c.1194+5G>A - skipping of exon 12) was not confirmed upon RNA studies from blood samples of the respective individuals but an allelic balance in favor of the other allele instead (due to presumed utilisation of an alternative splice site, introduction of a premature stop codon and NMD).

Allelic imbalance is discussed for the individual with the single LSS variant but not shown.

Variants did not show clustering (also upon 3D modelling).

Lanosterol synthase converts (S)-2,3-oxidosqualene to lanosterol in the cholesterol biosynthesis pathway. Quantification of cholesterol and its precursors in affected individuals did not however reveal any important imbalance.

As most individuals harbored an allele with missense variant, and mice homozygous for an allele with absent LSS activity show variable lethality, residual LSS activity is suggested for the individuals studied.

Several other disorders affecting cholesterol biosynthesis present overlapping features eg. DD/ID in Lathosterolosis, Desmosterolosis, Smith-Lemli-Opitz syndrome (in this case also genital anomalies), etc or cutaneous anomalies in others.

A neurodevelopmental phenotype in animal models for LSS deficiency is not commented.
-----
Based on the discussion of the current article (and OMIM):

Earlier studies [PMIDs : 26200341, 29016354 - Zhao et al 2015 and Chen and Liu 2017 respectively] found biallelic missense in individuals with congenital cataracts. DD/ID were not commented/observed. The subject reported by Chen had baldness and genital defects. Shumiya cataract rats due to mutation in Lss gene recapitulate the specific human phenotype [PMID: 16440058 and OMIM]. Cataract was not a feature in any of the individuals of the present study. The corresponding entry for this phenotype in OMIM is Cataract 44 (#616509).

PMID: 30401459 [Romano et al, 2018] reported biallelic LSS mutations in 3 unrelated families with hypotrichosis. Intellectual disability was a feature in 2 sibs from 1 non-consanguineous family (among the three). ID was considered to be coincidental by the authors. The respective entry in OMIM is Hypotrichosis 14 (#618275).
-----
LSS is not included in the DD panel of G2P, nor in gene panels for ID offered by diagnostic laboratories.
-----
As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Likely inborn error of metabolism v1.47 YARS2 Ivone Leong Source NHS GMS was added to YARS2.
Source London North GLH was added to YARS2.
Likely inborn error of metabolism v1.47 XDH Ivone Leong Source NHS GMS was added to XDH.
Source London North GLH was added to XDH.
Likely inborn error of metabolism v1.47 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Source London North GLH was added to WFS1.
Likely inborn error of metabolism v1.47 WDR45 Ivone Leong Source NHS GMS was added to WDR45.
Source London North GLH was added to WDR45.
Likely inborn error of metabolism v1.47 VPS33B Ivone Leong Source NHS GMS was added to VPS33B.
Source London North GLH was added to VPS33B.
Likely inborn error of metabolism v1.47 VKORC1 Ivone Leong Source NHS GMS was added to VKORC1.
Source London North GLH was added to VKORC1.
Likely inborn error of metabolism v1.47 VIPAS39 Ivone Leong Source NHS GMS was added to VIPAS39.
Source London North GLH was added to VIPAS39.
Likely inborn error of metabolism v1.47 USF1 Ivone Leong Source NHS GMS was added to USF1.
Source London North GLH was added to USF1.
Likely inborn error of metabolism v1.47 UROS Ivone Leong Source NHS GMS was added to UROS.
Source London North GLH was added to UROS.
Likely inborn error of metabolism v1.47 UROD Ivone Leong Source NHS GMS was added to UROD.
Source London North GLH was added to UROD.
Likely inborn error of metabolism v1.47 UROC1 Ivone Leong Source NHS GMS was added to UROC1.
Source London North GLH was added to UROC1.
Likely inborn error of metabolism v1.47 UQCRQ Ivone Leong Source NHS GMS was added to UQCRQ.
Source London North GLH was added to UQCRQ.
Likely inborn error of metabolism v1.47 UQCRB Ivone Leong Source NHS GMS was added to UQCRB.
Source London North GLH was added to UQCRB.
Likely inborn error of metabolism v1.47 UPB1 Ivone Leong Source NHS GMS was added to UPB1.
Source London North GLH was added to UPB1.
Likely inborn error of metabolism v1.47 UMPS Ivone Leong Source NHS GMS was added to UMPS.
Source London North GLH was added to UMPS.
Likely inborn error of metabolism v1.47 UMOD Ivone Leong Source NHS GMS was added to UMOD.
Source London North GLH was added to UMOD.
Likely inborn error of metabolism v1.47 UGT1A1 Ivone Leong Source NHS GMS was added to UGT1A1.
Source London North GLH was added to UGT1A1.
Likely inborn error of metabolism v1.47 TYMP Ivone Leong Source NHS GMS was added to TYMP.
Source London North GLH was added to TYMP.
Likely inborn error of metabolism v1.47 TUSC3 Ivone Leong Source NHS GMS was added to TUSC3.
Source London North GLH was added to TUSC3.
Likely inborn error of metabolism v1.47 TUFM Ivone Leong Source NHS GMS was added to TUFM.
Source London North GLH was added to TUFM.
Likely inborn error of metabolism v1.47 TTPA Ivone Leong Source NHS GMS was added to TTPA.
Source London North GLH was added to TTPA.
Likely inborn error of metabolism v1.47 TTC37 Ivone Leong Source NHS GMS was added to TTC37.
Source London North GLH was added to TTC37.
Likely inborn error of metabolism v1.47 TTC19 Ivone Leong Source NHS GMS was added to TTC19.
Source London North GLH was added to TTC19.
Likely inborn error of metabolism v1.47 TSFM Ivone Leong Source NHS GMS was added to TSFM.
Source London North GLH was added to TSFM.
Likely inborn error of metabolism v1.47 TRPM6 Ivone Leong Source NHS GMS was added to TRPM6.
Source London North GLH was added to TRPM6.
Likely inborn error of metabolism v1.47 TRMU Ivone Leong Source NHS GMS was added to TRMU.
Source London North GLH was added to TRMU.
Likely inborn error of metabolism v1.47 TRIM37 Ivone Leong Source NHS GMS was added to TRIM37.
Source London North GLH was added to TRIM37.
Likely inborn error of metabolism v1.47 TREX1 Ivone Leong Source NHS GMS was added to TREX1.
Source London North GLH was added to TREX1.
Likely inborn error of metabolism v1.47 TREH Ivone Leong Source NHS GMS was added to TREH.
Source London North GLH was added to TREH.
Likely inborn error of metabolism v1.47 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Source London North GLH was added to TPP1.
Likely inborn error of metabolism v1.47 TPMT Ivone Leong Source NHS GMS was added to TPMT.
Source London North GLH was added to TPMT.
Likely inborn error of metabolism v1.47 TMEM70 Ivone Leong Source NHS GMS was added to TMEM70.
Source London North GLH was added to TMEM70.
Likely inborn error of metabolism v1.47 TMEM165 Ivone Leong Source NHS GMS was added to TMEM165.
Source London North GLH was added to TMEM165.
Likely inborn error of metabolism v1.47 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Source London North GLH was added to TMEM126A.
Likely inborn error of metabolism v1.47 TK2 Ivone Leong Source NHS GMS was added to TK2.
Source London North GLH was added to TK2.
Likely inborn error of metabolism v1.47 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Source London North GLH was added to TIMM8A.
Likely inborn error of metabolism v1.47 TH Ivone Leong Source NHS GMS was added to TH.
Source London North GLH was added to TH.
Likely inborn error of metabolism v1.47 TFR2 Ivone Leong Source NHS GMS was added to TFR2.
Source London North GLH was added to TFR2.
Likely inborn error of metabolism v1.47 TDO2 Ivone Leong Source NHS GMS was added to TDO2.
Source London North GLH was added to TDO2.
Likely inborn error of metabolism v1.47 TCN2 Ivone Leong Source NHS GMS was added to TCN2.
Source London North GLH was added to TCN2.
Likely inborn error of metabolism v1.47 TCN1 Ivone Leong Source NHS GMS was added to TCN1.
Source London North GLH was added to TCN1.
Likely inborn error of metabolism v1.47 TAZ Ivone Leong Source NHS GMS was added to TAZ.
Source London North GLH was added to TAZ.
Likely inborn error of metabolism v1.47 TAT Ivone Leong Source NHS GMS was added to TAT.
Source London North GLH was added to TAT.
Likely inborn error of metabolism v1.47 TALDO1 Ivone Leong Source NHS GMS was added to TALDO1.
Source London North GLH was added to TALDO1.
Likely inborn error of metabolism v1.47 TACO1 Ivone Leong Source NHS GMS was added to TACO1.
Source London North GLH was added to TACO1.
Likely inborn error of metabolism v1.47 SURF1 Ivone Leong Source NHS GMS was added to SURF1.
Source London North GLH was added to SURF1.
Likely inborn error of metabolism v1.47 SUOX Ivone Leong Source NHS GMS was added to SUOX.
Source London North GLH was added to SUOX.
Likely inborn error of metabolism v1.47 SUMF1 Ivone Leong Source NHS GMS was added to SUMF1.
Source London North GLH was added to SUMF1.
Likely inborn error of metabolism v1.47 SUGCT Ivone Leong Source NHS GMS was added to SUGCT.
Source London North GLH was added to SUGCT.
Likely inborn error of metabolism v1.47 SUCLG2 Ivone Leong Source NHS GMS was added to SUCLG2.
Source London North GLH was added to SUCLG2.
Likely inborn error of metabolism v1.47 SUCLG1 Ivone Leong Source NHS GMS was added to SUCLG1.
Source London North GLH was added to SUCLG1.
Likely inborn error of metabolism v1.47 SUCLA2 Ivone Leong Source NHS GMS was added to SUCLA2.
Source London North GLH was added to SUCLA2.
Likely inborn error of metabolism v1.47 STS Ivone Leong Source NHS GMS was added to STS.
Source London North GLH was added to STS.
Likely inborn error of metabolism v1.47 ST3GAL5 Ivone Leong Source NHS GMS was added to ST3GAL5.
Source London North GLH was added to ST3GAL5.
Likely inborn error of metabolism v1.47 ST3GAL3 Ivone Leong Source NHS GMS was added to ST3GAL3.
Source London North GLH was added to ST3GAL3.
Likely inborn error of metabolism v1.47 SRD5A3 Ivone Leong Source NHS GMS was added to SRD5A3.
Source London North GLH was added to SRD5A3.
Likely inborn error of metabolism v1.47 SPTLC2 Ivone Leong Source NHS GMS was added to SPTLC2.
Source London North GLH was added to SPTLC2.
Likely inborn error of metabolism v1.47 SPTLC1 Ivone Leong Source NHS GMS was added to SPTLC1.
Source London North GLH was added to SPTLC1.
Likely inborn error of metabolism v1.47 SPR Ivone Leong Source NHS GMS was added to SPR.
Source London North GLH was added to SPR.
Likely inborn error of metabolism v1.47 SPG7 Ivone Leong Source NHS GMS was added to SPG7.
Source London North GLH was added to SPG7.
Likely inborn error of metabolism v1.47 SMPD1 Ivone Leong Source NHS GMS was added to SMPD1.
Source London North GLH was added to SMPD1.
Likely inborn error of metabolism v1.47 SLC7A9 Ivone Leong Source NHS GMS was added to SLC7A9.
Source London North GLH was added to SLC7A9.
Likely inborn error of metabolism v1.47 SLC7A7 Ivone Leong Source NHS GMS was added to SLC7A7.
Source London North GLH was added to SLC7A7.
Likely inborn error of metabolism v1.47 SLC6A8 Ivone Leong Source NHS GMS was added to SLC6A8.
Source London North GLH was added to SLC6A8.
Likely inborn error of metabolism v1.47 SLC6A3 Ivone Leong Source NHS GMS was added to SLC6A3.
Source London North GLH was added to SLC6A3.
Likely inborn error of metabolism v1.47 SLC6A19 Ivone Leong Source NHS GMS was added to SLC6A19.
Source London North GLH was added to SLC6A19.
Likely inborn error of metabolism v1.47 SLC5A1 Ivone Leong Source NHS GMS was added to SLC5A1.
Source London North GLH was added to SLC5A1.
Likely inborn error of metabolism v1.47 SLC46A1 Ivone Leong Source NHS GMS was added to SLC46A1.
Source London North GLH was added to SLC46A1.
Likely inborn error of metabolism v1.47 SLC40A1 Ivone Leong Source NHS GMS was added to SLC40A1.
Source London North GLH was added to SLC40A1.
Likely inborn error of metabolism v1.47 SLC3A1 Ivone Leong Source NHS GMS was added to SLC3A1.
Source London North GLH was added to SLC3A1.
Likely inborn error of metabolism v1.47 SLC39A8 Ivone Leong Source NHS GMS was added to SLC39A8.
Source London North GLH was added to SLC39A8.
Likely inborn error of metabolism v1.47 SLC39A4 Ivone Leong Source NHS GMS was added to SLC39A4.
Source London North GLH was added to SLC39A4.
Likely inborn error of metabolism v1.47 SLC37A4 Ivone Leong Source NHS GMS was added to SLC37A4.
Source London North GLH was added to SLC37A4.
Likely inborn error of metabolism v1.47 SLC36A2 Ivone Leong Source NHS GMS was added to SLC36A2.
Source London North GLH was added to SLC36A2.
Likely inborn error of metabolism v1.47 SLC35D1 Ivone Leong Source NHS GMS was added to SLC35D1.
Source London North GLH was added to SLC35D1.
Likely inborn error of metabolism v1.47 SLC35C1 Ivone Leong Source NHS GMS was added to SLC35C1.
Source London North GLH was added to SLC35C1.
Likely inborn error of metabolism v1.47 SLC35A2 Ivone Leong Source NHS GMS was added to SLC35A2.
Source London North GLH was added to SLC35A2.
Likely inborn error of metabolism v1.47 SLC35A1 Ivone Leong Source NHS GMS was added to SLC35A1.
Source London North GLH was added to SLC35A1.
Likely inborn error of metabolism v1.47 SLC30A10 Ivone Leong Source NHS GMS was added to SLC30A10.
Source London North GLH was added to SLC30A10.
Likely inborn error of metabolism v1.47 SLC2A2 Ivone Leong Source NHS GMS was added to SLC2A2.
Source London North GLH was added to SLC2A2.
Likely inborn error of metabolism v1.47 SLC2A1 Ivone Leong Source NHS GMS was added to SLC2A1.
Source London North GLH was added to SLC2A1.
Likely inborn error of metabolism v1.47 SLC27A5 Ivone Leong Source NHS GMS was added to SLC27A5.
Source London North GLH was added to SLC27A5.
Likely inborn error of metabolism v1.47 SLC25A4 Ivone Leong Source NHS GMS was added to SLC25A4.
Source London North GLH was added to SLC25A4.
Likely inborn error of metabolism v1.47 SLC25A38 Ivone Leong Source NHS GMS was added to SLC25A38.
Source London North GLH was added to SLC25A38.
Likely inborn error of metabolism v1.47 SLC25A3 Ivone Leong Source NHS GMS was added to SLC25A3.
Source London North GLH was added to SLC25A3.
Likely inborn error of metabolism v1.47 SLC25A22 Ivone Leong Source NHS GMS was added to SLC25A22.
Source London North GLH was added to SLC25A22.
Likely inborn error of metabolism v1.47 SLC25A20 Ivone Leong Source NHS GMS was added to SLC25A20.
Source London North GLH was added to SLC25A20.
Likely inborn error of metabolism v1.47 SLC25A2 Ivone Leong Source NHS GMS was added to SLC25A2.
Source London North GLH was added to SLC25A2.
Likely inborn error of metabolism v1.47 SLC25A19 Ivone Leong Source NHS GMS was added to SLC25A19.
Source London North GLH was added to SLC25A19.
Likely inborn error of metabolism v1.47 SLC25A15 Ivone Leong Source NHS GMS was added to SLC25A15.
Source London North GLH was added to SLC25A15.
Likely inborn error of metabolism v1.47 SLC25A13 Ivone Leong Source NHS GMS was added to SLC25A13.
Source London North GLH was added to SLC25A13.
Likely inborn error of metabolism v1.47 SLC25A12 Ivone Leong Source NHS GMS was added to SLC25A12.
Source London North GLH was added to SLC25A12.
Likely inborn error of metabolism v1.47 SLC25A1 Ivone Leong Source NHS GMS was added to SLC25A1.
Source London North GLH was added to SLC25A1.
Likely inborn error of metabolism v1.47 SLC22A5 Ivone Leong Source NHS GMS was added to SLC22A5.
Source London North GLH was added to SLC22A5.
Likely inborn error of metabolism v1.47 SLC19A3 Ivone Leong Source NHS GMS was added to SLC19A3.
Source London North GLH was added to SLC19A3.
Likely inborn error of metabolism v1.47 SLC19A2 Ivone Leong Source NHS GMS was added to SLC19A2.
Source London North GLH was added to SLC19A2.
Likely inborn error of metabolism v1.47 SLC18A2 Ivone Leong Source NHS GMS was added to SLC18A2.
Source London North GLH was added to SLC18A2.
Likely inborn error of metabolism v1.47 SLC17A5 Ivone Leong Source NHS GMS was added to SLC17A5.
Source London North GLH was added to SLC17A5.
Likely inborn error of metabolism v1.47 SLC12A3 Ivone Leong Source NHS GMS was added to SLC12A3.
Source London North GLH was added to SLC12A3.
Likely inborn error of metabolism v1.47 SKIV2L Ivone Leong Source NHS GMS was added to SKIV2L.
Source London North GLH was added to SKIV2L.
Likely inborn error of metabolism v1.47 SI Ivone Leong Source NHS GMS was added to SI.
Source London North GLH was added to SI.
Likely inborn error of metabolism v1.47 SHPK Ivone Leong Source NHS GMS was added to SHPK.
Source London North GLH was added to SHPK.
Likely inborn error of metabolism v1.47 SGSH Ivone Leong Source NHS GMS was added to SGSH.
Source London North GLH was added to SGSH.
Likely inborn error of metabolism v1.47 SETX Ivone Leong Source NHS GMS was added to SETX.
Source London North GLH was added to SETX.
Likely inborn error of metabolism v1.47 SERAC1 Ivone Leong Source NHS GMS was added to SERAC1.
Source London North GLH was added to SERAC1.
Likely inborn error of metabolism v1.47 SEC23B Ivone Leong Source NHS GMS was added to SEC23B.
Source London North GLH was added to SEC23B.
Likely inborn error of metabolism v1.47 SDHD Ivone Leong Source NHS GMS was added to SDHD.
Source London North GLH was added to SDHD.
Likely inborn error of metabolism v1.47 SDHC Ivone Leong Source NHS GMS was added to SDHC.
Source London North GLH was added to SDHC.
Likely inborn error of metabolism v1.47 SDHB Ivone Leong Source NHS GMS was added to SDHB.
Source London North GLH was added to SDHB.
Likely inborn error of metabolism v1.47 SDHAF2 Ivone Leong Source NHS GMS was added to SDHAF2.
Source London North GLH was added to SDHAF2.
Likely inborn error of metabolism v1.47 SDHAF1 Ivone Leong Source NHS GMS was added to SDHAF1.
Source London North GLH was added to SDHAF1.
Likely inborn error of metabolism v1.47 SDHA Ivone Leong Source NHS GMS was added to SDHA.
Source London North GLH was added to SDHA.
Likely inborn error of metabolism v1.47 SCP2 Ivone Leong Source NHS GMS was added to SCP2.
Source London North GLH was added to SCP2.
Likely inborn error of metabolism v1.47 SCO2 Ivone Leong Source NHS GMS was added to SCO2.
Source London North GLH was added to SCO2.
Likely inborn error of metabolism v1.47 SCO1 Ivone Leong Source NHS GMS was added to SCO1.
Source London North GLH was added to SCO1.
Likely inborn error of metabolism v1.47 SCARB1 Ivone Leong Source NHS GMS was added to SCARB1.
Source London North GLH was added to SCARB1.
Likely inborn error of metabolism v1.47 SC5D Ivone Leong Source NHS GMS was added to SC5D.
Source London North GLH was added to SC5D.
Likely inborn error of metabolism v1.47 SARS2 Ivone Leong Source NHS GMS was added to SARS2.
Source London North GLH was added to SARS2.
Likely inborn error of metabolism v1.47 SARDH Ivone Leong Source NHS GMS was added to SARDH.
Source London North GLH was added to SARDH.
Likely inborn error of metabolism v1.47 SAR1B Ivone Leong Source NHS GMS was added to SAR1B.
Source London North GLH was added to SAR1B.
Likely inborn error of metabolism v1.47 SAMHD1 Ivone Leong Source NHS GMS was added to SAMHD1.
Source London North GLH was added to SAMHD1.
Likely inborn error of metabolism v1.47 RRM2B Ivone Leong Source NHS GMS was added to RRM2B.
Source London North GLH was added to RRM2B.
Likely inborn error of metabolism v1.47 RPIA Ivone Leong Source NHS GMS was added to RPIA.
Source London North GLH was added to RPIA.
Likely inborn error of metabolism v1.47 RNASET2 Ivone Leong Source NHS GMS was added to RNASET2.
Source London North GLH was added to RNASET2.
Likely inborn error of metabolism v1.47 RNASEH2C Ivone Leong Source NHS GMS was added to RNASEH2C.
Source London North GLH was added to RNASEH2C.
Likely inborn error of metabolism v1.47 RNASEH2B Ivone Leong Source NHS GMS was added to RNASEH2B.
Source London North GLH was added to RNASEH2B.
Likely inborn error of metabolism v1.47 RNASEH2A Ivone Leong Source NHS GMS was added to RNASEH2A.
Source London North GLH was added to RNASEH2A.
Likely inborn error of metabolism v1.47 RMND1 Ivone Leong Source NHS GMS was added to RMND1.
Source London North GLH was added to RMND1.
Likely inborn error of metabolism v1.47 RFT1 Ivone Leong Source NHS GMS was added to RFT1.
Source London North GLH was added to RFT1.
Likely inborn error of metabolism v1.47 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Source London North GLH was added to RBP4.
Likely inborn error of metabolism v1.47 RARS2 Ivone Leong Source NHS GMS was added to RARS2.
Source London North GLH was added to RARS2.
Likely inborn error of metabolism v1.47 RANBP2 Ivone Leong Source NHS GMS was added to RANBP2.
Source London North GLH was added to RANBP2.
Likely inborn error of metabolism v1.47 QDPR Ivone Leong Source NHS GMS was added to QDPR.
Source London North GLH was added to QDPR.
Likely inborn error of metabolism v1.47 PYGM Ivone Leong Source NHS GMS was added to PYGM.
Source London North GLH was added to PYGM.
Likely inborn error of metabolism v1.47 PYGL Ivone Leong Source NHS GMS was added to PYGL.
Source London North GLH was added to PYGL.
Likely inborn error of metabolism v1.47 PYCR1 Ivone Leong Source NHS GMS was added to PYCR1.
Source London North GLH was added to PYCR1.
Likely inborn error of metabolism v1.47 PUS1 Ivone Leong Source NHS GMS was added to PUS1.
Source London North GLH was added to PUS1.
Likely inborn error of metabolism v1.47 PTS Ivone Leong Source NHS GMS was added to PTS.
Source London North GLH was added to PTS.
Likely inborn error of metabolism v1.47 PTPRZ1 Ivone Leong Source NHS GMS was added to PTPRZ1.
Source London North GLH was added to PTPRZ1.
Likely inborn error of metabolism v1.47 PSPH Ivone Leong Source NHS GMS was added to PSPH.
Source London North GLH was added to PSPH.
Likely inborn error of metabolism v1.47 PSAT1 Ivone Leong Source NHS GMS was added to PSAT1.
Source London North GLH was added to PSAT1.
Likely inborn error of metabolism v1.47 PSAP Ivone Leong Source NHS GMS was added to PSAP.
Source London North GLH was added to PSAP.
Likely inborn error of metabolism v1.47 PRPS1 Ivone Leong Source NHS GMS was added to PRPS1.
Source London North GLH was added to PRPS1.
Likely inborn error of metabolism v1.47 PRODH Ivone Leong Source NHS GMS was added to PRODH.
Source London North GLH was added to PRODH.
Likely inborn error of metabolism v1.47 PRKAG2 Ivone Leong Source NHS GMS was added to PRKAG2.
Source London North GLH was added to PRKAG2.
Likely inborn error of metabolism v1.47 PREPL Ivone Leong Source NHS GMS was added to PREPL.
Source London North GLH was added to PREPL.
Likely inborn error of metabolism v1.47 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Source London North GLH was added to PPT1.
Likely inborn error of metabolism v1.47 PPOX Ivone Leong Source NHS GMS was added to PPOX.
Source London North GLH was added to PPOX.
Likely inborn error of metabolism v1.47 PPM1B Ivone Leong Source NHS GMS was added to PPM1B.
Source London North GLH was added to PPM1B.
Likely inborn error of metabolism v1.47 POR Ivone Leong Source NHS GMS was added to POR.
Source London North GLH was added to POR.
Likely inborn error of metabolism v1.47 POMT2 Ivone Leong Source NHS GMS was added to POMT2.
Source London North GLH was added to POMT2.
Likely inborn error of metabolism v1.47 POMT1 Ivone Leong Source NHS GMS was added to POMT1.
Source London North GLH was added to POMT1.
Likely inborn error of metabolism v1.47 POMGNT1 Ivone Leong Source NHS GMS was added to POMGNT1.
Source London North GLH was added to POMGNT1.
Likely inborn error of metabolism v1.47 POLG2 Ivone Leong Source NHS GMS was added to POLG2.
Source London North GLH was added to POLG2.
Likely inborn error of metabolism v1.47 POLG Ivone Leong Source NHS GMS was added to POLG.
Source London North GLH was added to POLG.
Likely inborn error of metabolism v1.47 PNPT1 Ivone Leong Source NHS GMS was added to PNPT1.
Source London North GLH was added to PNPT1.
Likely inborn error of metabolism v1.47 PNPO Ivone Leong Source NHS GMS was added to PNPO.
Source London North GLH was added to PNPO.
Likely inborn error of metabolism v1.47 PNP Ivone Leong Source NHS GMS was added to PNP.
Source London North GLH was added to PNP.
Likely inborn error of metabolism v1.47 PNLIP Ivone Leong Source NHS GMS was added to PNLIP.
Source London North GLH was added to PNLIP.
Likely inborn error of metabolism v1.47 PMM2 Ivone Leong Source NHS GMS was added to PMM2.
Source London North GLH was added to PMM2.
Likely inborn error of metabolism v1.47 PLA2G6 Ivone Leong Source NHS GMS was added to PLA2G6.
Source London North GLH was added to PLA2G6.
Likely inborn error of metabolism v1.47 PINK1 Ivone Leong Source NHS GMS was added to PINK1.
Source London North GLH was added to PINK1.
Likely inborn error of metabolism v1.47 PIGV Ivone Leong Source NHS GMS was added to PIGV.
Source London North GLH was added to PIGV.
Likely inborn error of metabolism v1.47 PIGO Ivone Leong Source NHS GMS was added to PIGO.
Source London North GLH was added to PIGO.
Likely inborn error of metabolism v1.47 PIGN Ivone Leong Source NHS GMS was added to PIGN.
Source London North GLH was added to PIGN.
Likely inborn error of metabolism v1.47 PIGM Ivone Leong Source NHS GMS was added to PIGM.
Source London North GLH was added to PIGM.
Likely inborn error of metabolism v1.47 PIGL Ivone Leong Source NHS GMS was added to PIGL.
Source London North GLH was added to PIGL.
Likely inborn error of metabolism v1.47 PIGA Ivone Leong Source NHS GMS was added to PIGA.
Source London North GLH was added to PIGA.
Likely inborn error of metabolism v1.47 PHYKPL Ivone Leong Source NHS GMS was added to PHYKPL.
Source London North GLH was added to PHYKPL.
Likely inborn error of metabolism v1.47 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Source London North GLH was added to PHYH.
Likely inborn error of metabolism v1.47 PHKG2 Ivone Leong Source NHS GMS was added to PHKG2.
Source London North GLH was added to PHKG2.
Likely inborn error of metabolism v1.47 PHKB Ivone Leong Source NHS GMS was added to PHKB.
Source London North GLH was added to PHKB.
Likely inborn error of metabolism v1.47 PHKA2 Ivone Leong Source NHS GMS was added to PHKA2.
Source London North GLH was added to PHKA2.
Likely inborn error of metabolism v1.47 PHKA1 Ivone Leong Source NHS GMS was added to PHKA1.
Source London North GLH was added to PHKA1.
Likely inborn error of metabolism v1.47 PHGDH Ivone Leong Source NHS GMS was added to PHGDH.
Source London North GLH was added to PHGDH.
Likely inborn error of metabolism v1.47 PGM1 Ivone Leong Source NHS GMS was added to PGM1.
Source London North GLH was added to PGM1.
Likely inborn error of metabolism v1.47 PGK1 Ivone Leong Source NHS GMS was added to PGK1.
Source London North GLH was added to PGK1.
Likely inborn error of metabolism v1.47 PGAP2 Ivone Leong Source NHS GMS was added to PGAP2.
Source London North GLH was added to PGAP2.
Likely inborn error of metabolism v1.47 PGAM2 Ivone Leong Source NHS GMS was added to PGAM2.
Source London North GLH was added to PGAM2.
Likely inborn error of metabolism v1.47 PFKM Ivone Leong Source NHS GMS was added to PFKM.
Source London North GLH was added to PFKM.
Likely inborn error of metabolism v1.47 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Source London North GLH was added to PEX7.
Likely inborn error of metabolism v1.47 PEX6 Ivone Leong Source NHS GMS was added to PEX6.
Source London North GLH was added to PEX6.
Likely inborn error of metabolism v1.47 PEX5 Ivone Leong Source NHS GMS was added to PEX5.
Source London North GLH was added to PEX5.
Likely inborn error of metabolism v1.47 PEX3 Ivone Leong Source NHS GMS was added to PEX3.
Source London North GLH was added to PEX3.
Likely inborn error of metabolism v1.47 PEX26 Ivone Leong Source NHS GMS was added to PEX26.
Source London North GLH was added to PEX26.
Likely inborn error of metabolism v1.47 PEX2 Ivone Leong Source NHS GMS was added to PEX2.
Source London North GLH was added to PEX2.
Likely inborn error of metabolism v1.47 PEX19 Ivone Leong Source NHS GMS was added to PEX19.
Source London North GLH was added to PEX19.
Likely inborn error of metabolism v1.47 PEX16 Ivone Leong Source NHS GMS was added to PEX16.
Source London North GLH was added to PEX16.
Likely inborn error of metabolism v1.47 PEX14 Ivone Leong Source NHS GMS was added to PEX14.
Source London North GLH was added to PEX14.
Likely inborn error of metabolism v1.47 PEX13 Ivone Leong Source NHS GMS was added to PEX13.
Source London North GLH was added to PEX13.
Likely inborn error of metabolism v1.47 PEX12 Ivone Leong Source NHS GMS was added to PEX12.
Source London North GLH was added to PEX12.
Likely inborn error of metabolism v1.47 PEX10 Ivone Leong Source NHS GMS was added to PEX10.
Source London North GLH was added to PEX10.
Likely inborn error of metabolism v1.47 PEX1 Ivone Leong Source NHS GMS was added to PEX1.
Source London North GLH was added to PEX1.
Likely inborn error of metabolism v1.47 PEPD Ivone Leong Source NHS GMS was added to PEPD.
Source London North GLH was added to PEPD.
Likely inborn error of metabolism v1.47 PDXK Ivone Leong Source NHS GMS was added to PDXK.
Source London North GLH was added to PDXK.
Likely inborn error of metabolism v1.47 PDSS2 Ivone Leong Source NHS GMS was added to PDSS2.
Source London North GLH was added to PDSS2.
Likely inborn error of metabolism v1.47 PDSS1 Ivone Leong Source NHS GMS was added to PDSS1.
Source London North GLH was added to PDSS1.
Likely inborn error of metabolism v1.47 PDPR Ivone Leong Source NHS GMS was added to PDPR.
Source London North GLH was added to PDPR.
Likely inborn error of metabolism v1.47 PDP2 Ivone Leong Source NHS GMS was added to PDP2.
Source London North GLH was added to PDP2.
Likely inborn error of metabolism v1.47 PDP1 Ivone Leong Source NHS GMS was added to PDP1.
Source London North GLH was added to PDP1.
Likely inborn error of metabolism v1.47 PDK4 Ivone Leong Source NHS GMS was added to PDK4.
Source London North GLH was added to PDK4.
Likely inborn error of metabolism v1.47 PDK3 Ivone Leong Source NHS GMS was added to PDK3.
Source London North GLH was added to PDK3.
Likely inborn error of metabolism v1.47 PDK2 Ivone Leong Source NHS GMS was added to PDK2.
Source London North GLH was added to PDK2.
Likely inborn error of metabolism v1.47 PDK1 Ivone Leong Source NHS GMS was added to PDK1.
Source London North GLH was added to PDK1.
Likely inborn error of metabolism v1.47 PDHX Ivone Leong Source NHS GMS was added to PDHX.
Source London North GLH was added to PDHX.
Likely inborn error of metabolism v1.47 PDHB Ivone Leong Source NHS GMS was added to PDHB.
Source London North GLH was added to PDHB.
Likely inborn error of metabolism v1.47 PDHA1 Ivone Leong Source NHS GMS was added to PDHA1.
Source London North GLH was added to PDHA1.
Likely inborn error of metabolism v1.47 PCSK9 Ivone Leong Source NHS GMS was added to PCSK9.
Source London North GLH was added to PCSK9.
Likely inborn error of metabolism v1.47 PCK1 Ivone Leong Source NHS GMS was added to PCK1.
Source London North GLH was added to PCK1.
Likely inborn error of metabolism v1.47 PCCB Ivone Leong Source NHS GMS was added to PCCB.
Source London North GLH was added to PCCB.
Likely inborn error of metabolism v1.47 PCCA Ivone Leong Source NHS GMS was added to PCCA.
Source London North GLH was added to PCCA.
Likely inborn error of metabolism v1.47 PCBD1 Ivone Leong Source NHS GMS was added to PCBD1.
Source London North GLH was added to PCBD1.
Likely inborn error of metabolism v1.47 PC Ivone Leong Source NHS GMS was added to PC.
Source London North GLH was added to PC.
Likely inborn error of metabolism v1.47 PANK2 Ivone Leong Source NHS GMS was added to PANK2.
Source London North GLH was added to PANK2.
Likely inborn error of metabolism v1.47 PAH Ivone Leong Source NHS GMS was added to PAH.
Source London North GLH was added to PAH.
Likely inborn error of metabolism v1.47 OXCT1 Ivone Leong Source NHS GMS was added to OXCT1.
Source London North GLH was added to OXCT1.
Likely inborn error of metabolism v1.47 OTC Ivone Leong Source NHS GMS was added to OTC.
Source London North GLH was added to OTC.
Likely inborn error of metabolism v1.47 OPLAH Ivone Leong Source NHS GMS was added to OPLAH.
Source London North GLH was added to OPLAH.
Likely inborn error of metabolism v1.47 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Source London North GLH was added to OPA3.
Likely inborn error of metabolism v1.47 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Source London North GLH was added to OPA1.
Likely inborn error of metabolism v1.47 OGDH Ivone Leong Source NHS GMS was added to OGDH.
Source London North GLH was added to OGDH.
Likely inborn error of metabolism v1.47 OCRL Ivone Leong Source NHS GMS was added to OCRL.
Source London North GLH was added to OCRL.
Likely inborn error of metabolism v1.47 OAT Ivone Leong Source NHS GMS was added to OAT.
Source London North GLH was added to OAT.
Likely inborn error of metabolism v1.47 NUP62 Ivone Leong Source NHS GMS was added to NUP62.
Source London North GLH was added to NUP62.
Likely inborn error of metabolism v1.47 NUBPL Ivone Leong Source NHS GMS was added to NUBPL.
Source London North GLH was added to NUBPL.
Likely inborn error of metabolism v1.47 NT5C3A Ivone Leong Source NHS GMS was added to NT5C3A.
Source London North GLH was added to NT5C3A.
Likely inborn error of metabolism v1.47 NT5C Ivone Leong Source NHS GMS was added to NT5C.
Source London North GLH was added to NT5C.
Likely inborn error of metabolism v1.47 NSDHL Ivone Leong Source NHS GMS was added to NSDHL.
Source London North GLH was added to NSDHL.
Likely inborn error of metabolism v1.47 NPC2 Ivone Leong Source NHS GMS was added to NPC2.
Source London North GLH was added to NPC2.
Likely inborn error of metabolism v1.47 NPC1 Ivone Leong Source NHS GMS was added to NPC1.
Source London North GLH was added to NPC1.
Likely inborn error of metabolism v1.47 NHLRC1 Ivone Leong Source NHS GMS was added to NHLRC1.
Source London North GLH was added to NHLRC1.
Likely inborn error of metabolism v1.47 NFU1 Ivone Leong Source NHS GMS was added to NFU1.
Source London North GLH was added to NFU1.
Likely inborn error of metabolism v1.47 NEU1 Ivone Leong Source NHS GMS was added to NEU1.
Source London North GLH was added to NEU1.
Likely inborn error of metabolism v1.47 NDUFV2 Ivone Leong Source NHS GMS was added to NDUFV2.
Source London North GLH was added to NDUFV2.
Likely inborn error of metabolism v1.47 NDUFV1 Ivone Leong Source NHS GMS was added to NDUFV1.
Source London North GLH was added to NDUFV1.
Likely inborn error of metabolism v1.47 NDUFS8 Ivone Leong Source NHS GMS was added to NDUFS8.
Source London North GLH was added to NDUFS8.
Likely inborn error of metabolism v1.47 NDUFS7 Ivone Leong Source NHS GMS was added to NDUFS7.
Source London North GLH was added to NDUFS7.
Likely inborn error of metabolism v1.47 NDUFS6 Ivone Leong Source NHS GMS was added to NDUFS6.
Source London North GLH was added to NDUFS6.
Likely inborn error of metabolism v1.47 NDUFS4 Ivone Leong Source NHS GMS was added to NDUFS4.
Source London North GLH was added to NDUFS4.
Likely inborn error of metabolism v1.47 NDUFS3 Ivone Leong Source NHS GMS was added to NDUFS3.
Source London North GLH was added to NDUFS3.
Likely inborn error of metabolism v1.47 NDUFS2 Ivone Leong Source NHS GMS was added to NDUFS2.
Source London North GLH was added to NDUFS2.
Likely inborn error of metabolism v1.47 NDUFS1 Ivone Leong Source NHS GMS was added to NDUFS1.
Source London North GLH was added to NDUFS1.
Likely inborn error of metabolism v1.47 NDUFB9 Ivone Leong Source NHS GMS was added to NDUFB9.
Source London North GLH was added to NDUFB9.
Likely inborn error of metabolism v1.47 NDUFB3 Ivone Leong Source NHS GMS was added to NDUFB3.
Source London North GLH was added to NDUFB3.
Likely inborn error of metabolism v1.47 NDUFAF6 Ivone Leong Source NHS GMS was added to NDUFAF6.
Source London North GLH was added to NDUFAF6.
Likely inborn error of metabolism v1.47 NDUFAF5 Ivone Leong Source NHS GMS was added to NDUFAF5.
Source London North GLH was added to NDUFAF5.
Likely inborn error of metabolism v1.47 NDUFAF4 Ivone Leong Source NHS GMS was added to NDUFAF4.
Source London North GLH was added to NDUFAF4.
Likely inborn error of metabolism v1.47 NDUFAF3 Ivone Leong Source NHS GMS was added to NDUFAF3.
Source London North GLH was added to NDUFAF3.
Likely inborn error of metabolism v1.47 NDUFAF2 Ivone Leong Source NHS GMS was added to NDUFAF2.
Source London North GLH was added to NDUFAF2.
Likely inborn error of metabolism v1.47 NDUFAF1 Ivone Leong Source NHS GMS was added to NDUFAF1.
Source London North GLH was added to NDUFAF1.
Likely inborn error of metabolism v1.47 NDUFA9 Ivone Leong Source NHS GMS was added to NDUFA9.
Source London North GLH was added to NDUFA9.
Likely inborn error of metabolism v1.47 NDUFA2 Ivone Leong Source NHS GMS was added to NDUFA2.
Source London North GLH was added to NDUFA2.
Likely inborn error of metabolism v1.47 NDUFA12 Ivone Leong Source NHS GMS was added to NDUFA12.
Source London North GLH was added to NDUFA12.
Likely inborn error of metabolism v1.47 NDUFA11 Ivone Leong Source NHS GMS was added to NDUFA11.
Source London North GLH was added to NDUFA11.
Likely inborn error of metabolism v1.47 NDUFA10 Ivone Leong Source NHS GMS was added to NDUFA10.
Source London North GLH was added to NDUFA10.
Likely inborn error of metabolism v1.47 NDUFA1 Ivone Leong Source NHS GMS was added to NDUFA1.
Source London North GLH was added to NDUFA1.
Likely inborn error of metabolism v1.47 NAGS Ivone Leong Source NHS GMS was added to NAGS.
Source London North GLH was added to NAGS.
Likely inborn error of metabolism v1.47 NAGLU Ivone Leong Source NHS GMS was added to NAGLU.
Source London North GLH was added to NAGLU.
Likely inborn error of metabolism v1.47 NAGA Ivone Leong Source NHS GMS was added to NAGA.
Source London North GLH was added to NAGA.
Likely inborn error of metabolism v1.47 MVK Ivone Leong Source NHS GMS was added to MVK.
Source London North GLH was added to MVK.
Likely inborn error of metabolism v1.47 MUT Ivone Leong Source NHS GMS was added to MUT.
Source London North GLH was added to MUT.
Likely inborn error of metabolism v1.47 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Source London North GLH was added to MTTP.
Likely inborn error of metabolism v1.47 MTRR Ivone Leong Source NHS GMS was added to MTRR.
Source London North GLH was added to MTRR.
Likely inborn error of metabolism v1.47 MTR Ivone Leong Source NHS GMS was added to MTR.
Source London North GLH was added to MTR.
Likely inborn error of metabolism v1.47 MTPAP Ivone Leong Source NHS GMS was added to MTPAP.
Source London North GLH was added to MTPAP.
Likely inborn error of metabolism v1.47 MTO1 Ivone Leong Source NHS GMS was added to MTO1.
Source London North GLH was added to MTO1.
Likely inborn error of metabolism v1.47 MTHFR Ivone Leong Source NHS GMS was added to MTHFR.
Source London North GLH was added to MTHFR.
Likely inborn error of metabolism v1.47 MTFMT Ivone Leong Source NHS GMS was added to MTFMT.
Source London North GLH was added to MTFMT.
Likely inborn error of metabolism v1.47 MSMO1 Ivone Leong Source NHS GMS was added to MSMO1.
Source London North GLH was added to MSMO1.
Likely inborn error of metabolism v1.47 MRPS22 Ivone Leong Source NHS GMS was added to MRPS22.
Source London North GLH was added to MRPS22.
Likely inborn error of metabolism v1.47 MRPS16 Ivone Leong Source NHS GMS was added to MRPS16.
Source London North GLH was added to MRPS16.
Likely inborn error of metabolism v1.47 MRPL3 Ivone Leong Source NHS GMS was added to MRPL3.
Source London North GLH was added to MRPL3.
Likely inborn error of metabolism v1.47 MPV17 Ivone Leong Source NHS GMS was added to MPV17.
Source London North GLH was added to MPV17.
Likely inborn error of metabolism v1.47 MPI Ivone Leong Source NHS GMS was added to MPI.
Source London North GLH was added to MPI.
Likely inborn error of metabolism v1.47 MPDU1 Ivone Leong Source NHS GMS was added to MPDU1.
Source London North GLH was added to MPDU1.
Likely inborn error of metabolism v1.47 MOGS Ivone Leong Source NHS GMS was added to MOGS.
Source London North GLH was added to MOGS.
Likely inborn error of metabolism v1.47 MOCS2 Ivone Leong Source NHS GMS was added to MOCS2.
Source London North GLH was added to MOCS2.
Likely inborn error of metabolism v1.47 MOCS1 Ivone Leong Source NHS GMS was added to MOCS1.
Source London North GLH was added to MOCS1.
Likely inborn error of metabolism v1.47 MMADHC Ivone Leong Source NHS GMS was added to MMADHC.
Source London North GLH was added to MMADHC.
Likely inborn error of metabolism v1.47 MMACHC Ivone Leong Source NHS GMS was added to MMACHC.
Source London North GLH was added to MMACHC.
Likely inborn error of metabolism v1.47 MMAB Ivone Leong Source NHS GMS was added to MMAB.
Source London North GLH was added to MMAB.
Likely inborn error of metabolism v1.47 MMAA Ivone Leong Source NHS GMS was added to MMAA.
Source London North GLH was added to MMAA.
Likely inborn error of metabolism v1.47 MLYCD Ivone Leong Source NHS GMS was added to MLYCD.
Source London North GLH was added to MLYCD.
Likely inborn error of metabolism v1.47 MGAT2 Ivone Leong Source NHS GMS was added to MGAT2.
Source London North GLH was added to MGAT2.
Likely inborn error of metabolism v1.47 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Source London North GLH was added to MFSD8.
Likely inborn error of metabolism v1.47 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Source London North GLH was added to MFN2.
Likely inborn error of metabolism v1.47 MFF Ivone Leong Source NHS GMS was added to MFF.
Source London North GLH was added to MFF.
Likely inborn error of metabolism v1.47 MCOLN1 Ivone Leong Source NHS GMS was added to MCOLN1.
Source London North GLH was added to MCOLN1.
Likely inborn error of metabolism v1.47 MCEE Ivone Leong Source NHS GMS was added to MCEE.
Source London North GLH was added to MCEE.
Likely inborn error of metabolism v1.47 MCCC2 Ivone Leong Source NHS GMS was added to MCCC2.
Source London North GLH was added to MCCC2.
Likely inborn error of metabolism v1.47 MCCC1 Ivone Leong Source NHS GMS was added to MCCC1.
Source London North GLH was added to MCCC1.
Likely inborn error of metabolism v1.47 MAT1A Ivone Leong Source NHS GMS was added to MAT1A.
Source London North GLH was added to MAT1A.
Likely inborn error of metabolism v1.47 MARS2 Ivone Leong Source NHS GMS was added to MARS2.
Source London North GLH was added to MARS2.
Likely inborn error of metabolism v1.47 MAOA Ivone Leong Source NHS GMS was added to MAOA.
Source London North GLH was added to MAOA.
Likely inborn error of metabolism v1.47 MANBA Ivone Leong Source NHS GMS was added to MANBA.
Source London North GLH was added to MANBA.
Likely inborn error of metabolism v1.47 MAN2B1 Ivone Leong Source NHS GMS was added to MAN2B1.
Source London North GLH was added to MAN2B1.
Likely inborn error of metabolism v1.47 MAN1B1 Ivone Leong Source NHS GMS was added to MAN1B1.
Source London North GLH was added to MAN1B1.
Likely inborn error of metabolism v1.47 MAGT1 Ivone Leong Source NHS GMS was added to MAGT1.
Source London North GLH was added to MAGT1.
Likely inborn error of metabolism v1.47 LRPPRC Ivone Leong Source NHS GMS was added to LRPPRC.
Source London North GLH was added to LRPPRC.
Likely inborn error of metabolism v1.47 LPL Ivone Leong Source NHS GMS was added to LPL.
Source London North GLH was added to LPL.
Likely inborn error of metabolism v1.47 LPIN1 Ivone Leong Source NHS GMS was added to LPIN1.
Source London North GLH was added to LPIN1.
Likely inborn error of metabolism v1.47 LMBRD1 Ivone Leong Source NHS GMS was added to LMBRD1.
Source London North GLH was added to LMBRD1.
Likely inborn error of metabolism v1.47 LIPI Ivone Leong Source NHS GMS was added to LIPI.
Source London North GLH was added to LIPI.
Likely inborn error of metabolism v1.47 LIPC Ivone Leong Source NHS GMS was added to LIPC.
Source London North GLH was added to LIPC.
Likely inborn error of metabolism v1.47 LIPA Ivone Leong Source NHS GMS was added to LIPA.
Source London North GLH was added to LIPA.
Likely inborn error of metabolism v1.47 LIAS Ivone Leong Source NHS GMS was added to LIAS.
Source London North GLH was added to LIAS.
Likely inborn error of metabolism v1.47 LFNG Ivone Leong Source NHS GMS was added to LFNG.
Source London North GLH was added to LFNG.
Likely inborn error of metabolism v1.47 LDLRAP1 Ivone Leong Source NHS GMS was added to LDLRAP1.
Source London North GLH was added to LDLRAP1.
Likely inborn error of metabolism v1.47 LDLR Ivone Leong Source NHS GMS was added to LDLR.
Source London North GLH was added to LDLR.
Likely inborn error of metabolism v1.47 LDHA Ivone Leong Source NHS GMS was added to LDHA.
Source London North GLH was added to LDHA.
Likely inborn error of metabolism v1.47 LCT Ivone Leong Source NHS GMS was added to LCT.
Source London North GLH was added to LCT.
Likely inborn error of metabolism v1.47 LCAT Ivone Leong Source NHS GMS was added to LCAT.
Source London North GLH was added to LCAT.
Likely inborn error of metabolism v1.47 LBR Ivone Leong Source NHS GMS was added to LBR.
Source London North GLH was added to LBR.
Likely inborn error of metabolism v1.47 LARS2 Ivone Leong Source NHS GMS was added to LARS2.
Source London North GLH was added to LARS2.
Likely inborn error of metabolism v1.47 LARGE1 Ivone Leong Source NHS GMS was added to LARGE1.
Source London North GLH was added to LARGE1.
Likely inborn error of metabolism v1.47 LAMP2 Ivone Leong Source NHS GMS was added to LAMP2.
Source London North GLH was added to LAMP2.
Likely inborn error of metabolism v1.47 L2HGDH Ivone Leong Source NHS GMS was added to L2HGDH.
Source London North GLH was added to L2HGDH.
Likely inborn error of metabolism v1.47 KYNU Ivone Leong Source NHS GMS was added to KYNU.
Source London North GLH was added to KYNU.
Likely inborn error of metabolism v1.47 KHK Ivone Leong Source NHS GMS was added to KHK.
Source London North GLH was added to KHK.
Likely inborn error of metabolism v1.47 KARS Ivone Leong Source NHS GMS was added to KARS.
Source London North GLH was added to KARS.
Likely inborn error of metabolism v1.47 IVD Ivone Leong Source NHS GMS was added to IVD.
Source London North GLH was added to IVD.
Likely inborn error of metabolism v1.47 ITPA Ivone Leong Source NHS GMS was added to ITPA.
Source London North GLH was added to ITPA.
Likely inborn error of metabolism v1.47 ISCU Ivone Leong Source NHS GMS was added to ISCU.
Source London North GLH was added to ISCU.
Likely inborn error of metabolism v1.47 IDUA Ivone Leong Source NHS GMS was added to IDUA.
Source London North GLH was added to IDUA.
Likely inborn error of metabolism v1.47 IDS Ivone Leong Source NHS GMS was added to IDS.
Source London North GLH was added to IDS.
Likely inborn error of metabolism v1.47 IDH2 Ivone Leong Source NHS GMS was added to IDH2.
Source London North GLH was added to IDH2.
Likely inborn error of metabolism v1.47 IARS2 Ivone Leong Source NHS GMS was added to IARS2.
Source London North GLH was added to IARS2.
Likely inborn error of metabolism v1.47 HYKK Ivone Leong Source NHS GMS was added to HYKK.
Source London North GLH was added to HYKK.
Likely inborn error of metabolism v1.47 HYAL1 Ivone Leong Source NHS GMS was added to HYAL1.
Source London North GLH was added to HYAL1.
Likely inborn error of metabolism v1.47 HSPD1 Ivone Leong Source NHS GMS was added to HSPD1.
Source London North GLH was added to HSPD1.
Likely inborn error of metabolism v1.47 HSD3B7 Ivone Leong Source NHS GMS was added to HSD3B7.
Source London North GLH was added to HSD3B7.
Likely inborn error of metabolism v1.47 HSD17B4 Ivone Leong Source NHS GMS was added to HSD17B4.
Source London North GLH was added to HSD17B4.
Likely inborn error of metabolism v1.47 HSD17B10 Ivone Leong Source NHS GMS was added to HSD17B10.
Source London North GLH was added to HSD17B10.
Likely inborn error of metabolism v1.47 HPS1 Ivone Leong Source NHS GMS was added to HPS1.
Source London North GLH was added to HPS1.