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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.
Likely inborn error of metabolism v1.47 HPRT1 Ivone Leong Source NHS GMS was added to HPRT1.
Source London North GLH was added to HPRT1.
Likely inborn error of metabolism v1.47 HPD Ivone Leong Source NHS GMS was added to HPD.
Source London North GLH was added to HPD.
Likely inborn error of metabolism v1.47 HOGA1 Ivone Leong Source NHS GMS was added to HOGA1.
Source London North GLH was added to HOGA1.
Likely inborn error of metabolism v1.47 HMGCS2 Ivone Leong Source NHS GMS was added to HMGCS2.
Source London North GLH was added to HMGCS2.
Likely inborn error of metabolism v1.47 HMGCL Ivone Leong Source NHS GMS was added to HMGCL.
Source London North GLH was added to HMGCL.
Likely inborn error of metabolism v1.47 HMBS Ivone Leong Source NHS GMS was added to HMBS.
Source London North GLH was added to HMBS.
Likely inborn error of metabolism v1.47 HLCS Ivone Leong Source NHS GMS was added to HLCS.
Source London North GLH was added to HLCS.
Likely inborn error of metabolism v1.47 HIBCH Ivone Leong Source NHS GMS was added to HIBCH.
Source London North GLH was added to HIBCH.
Likely inborn error of metabolism v1.47 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Source London North GLH was added to HGSNAT.
Likely inborn error of metabolism v1.47 HGD Ivone Leong Source NHS GMS was added to HGD.
Source London North GLH was added to HGD.
Likely inborn error of metabolism v1.47 HFE2 Ivone Leong Source NHS GMS was added to HFE2.
Source London North GLH was added to HFE2.
Likely inborn error of metabolism v1.47 HFE Ivone Leong Source NHS GMS was added to HFE.
Source London North GLH was added to HFE.
Likely inborn error of metabolism v1.47 HEXB Ivone Leong Source NHS GMS was added to HEXB.
Source London North GLH was added to HEXB.
Likely inborn error of metabolism v1.47 HEXA Ivone Leong Source NHS GMS was added to HEXA.
Source London North GLH was added to HEXA.
Likely inborn error of metabolism v1.47 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Source London North GLH was added to HCCS.
Likely inborn error of metabolism v1.47 HARS2 Ivone Leong Source NHS GMS was added to HARS2.
Source London North GLH was added to HARS2.
Likely inborn error of metabolism v1.47 HAMP Ivone Leong Source NHS GMS was added to HAMP.
Source London North GLH was added to HAMP.
Likely inborn error of metabolism v1.47 HAL Ivone Leong Source NHS GMS was added to HAL.
Source London North GLH was added to HAL.
Likely inborn error of metabolism v1.47 HADHB Ivone Leong Source NHS GMS was added to HADHB.
Source London North GLH was added to HADHB.
Likely inborn error of metabolism v1.47 HADHA Ivone Leong Source NHS GMS was added to HADHA.
Source London North GLH was added to HADHA.
Likely inborn error of metabolism v1.47 HADH Ivone Leong Source NHS GMS was added to HADH.
Source London North GLH was added to HADH.
Likely inborn error of metabolism v1.47 GYS2 Ivone Leong Source NHS GMS was added to GYS2.
Source London North GLH was added to GYS2.
Likely inborn error of metabolism v1.47 GYS1 Ivone Leong Source NHS GMS was added to GYS1.
Source London North GLH was added to GYS1.
Likely inborn error of metabolism v1.47 GYG1 Ivone Leong Source NHS GMS was added to GYG1.
Source London North GLH was added to GYG1.
Likely inborn error of metabolism v1.47 GUSB Ivone Leong Source NHS GMS was added to GUSB.
Source London North GLH was added to GUSB.
Likely inborn error of metabolism v1.47 GSS Ivone Leong Source NHS GMS was added to GSS.
Source London North GLH was added to GSS.
Likely inborn error of metabolism v1.47 GRHPR Ivone Leong Source NHS GMS was added to GRHPR.
Source London North GLH was added to GRHPR.
Likely inborn error of metabolism v1.47 GPHN Ivone Leong Source NHS GMS was added to GPHN.
Source London North GLH was added to GPHN.
Likely inborn error of metabolism v1.47 GNS Ivone Leong Source NHS GMS was added to GNS.
Source London North GLH was added to GNS.
Likely inborn error of metabolism v1.47 GNPTG Ivone Leong Source NHS GMS was added to GNPTG.
Source London North GLH was added to GNPTG.
Likely inborn error of metabolism v1.47 GNPTAB Ivone Leong Source NHS GMS was added to GNPTAB.
Source London North GLH was added to GNPTAB.
Likely inborn error of metabolism v1.47 GNPAT Ivone Leong Source NHS GMS was added to GNPAT.
Source London North GLH was added to GNPAT.
Likely inborn error of metabolism v1.47 GNMT Ivone Leong Source NHS GMS was added to GNMT.
Source London North GLH was added to GNMT.
Likely inborn error of metabolism v1.47 GNE Ivone Leong Source NHS GMS was added to GNE.
Source London North GLH was added to GNE.
Likely inborn error of metabolism v1.47 GM2A Ivone Leong Source NHS GMS was added to GM2A.
Source London North GLH was added to GM2A.
Likely inborn error of metabolism v1.47 GLYCTK Ivone Leong Source NHS GMS was added to GLYCTK.
Source London North GLH was added to GLYCTK.
Likely inborn error of metabolism v1.47 GLUL Ivone Leong Source NHS GMS was added to GLUL.
Source London North GLH was added to GLUL.
Likely inborn error of metabolism v1.47 GLUD1 Ivone Leong Source NHS GMS was added to GLUD1.
Source London North GLH was added to GLUD1.
Likely inborn error of metabolism v1.47 GLS Ivone Leong Source NHS GMS was added to GLS.
Source London North GLH was added to GLS.
Likely inborn error of metabolism v1.47 GLRX5 Ivone Leong Source NHS GMS was added to GLRX5.
Source London North GLH was added to GLRX5.
Likely inborn error of metabolism v1.47 GLDC Ivone Leong Source NHS GMS was added to GLDC.
Source London North GLH was added to GLDC.
Likely inborn error of metabolism v1.47 GLB1 Ivone Leong Source NHS GMS was added to GLB1.
Source London North GLH was added to GLB1.
Likely inborn error of metabolism v1.47 GLA Ivone Leong Source NHS GMS was added to GLA.
Source London North GLH was added to GLA.
Likely inborn error of metabolism v1.47 GK Ivone Leong Source NHS GMS was added to GK.
Source London North GLH was added to GK.
Likely inborn error of metabolism v1.47 GIF Ivone Leong Source NHS GMS was added to GIF.
Source London North GLH was added to GIF.
Likely inborn error of metabolism v1.47 GGT1 Ivone Leong Source NHS GMS was added to GGT1.
Source London North GLH was added to GGT1.
Likely inborn error of metabolism v1.47 GFPT1 Ivone Leong Source NHS GMS was added to GFPT1.
Source London North GLH was added to GFPT1.
Likely inborn error of metabolism v1.47 GFM1 Ivone Leong Source NHS GMS was added to GFM1.
Source London North GLH was added to GFM1.
Likely inborn error of metabolism v1.47 GFER Ivone Leong Source NHS GMS was added to GFER.
Source London North GLH was added to GFER.
Likely inborn error of metabolism v1.47 GCSH Ivone Leong Source NHS GMS was added to GCSH.
Source London North GLH was added to GCSH.
Likely inborn error of metabolism v1.47 GCLC Ivone Leong Source NHS GMS was added to GCLC.
Source London North GLH was added to GCLC.
Likely inborn error of metabolism v1.47 GCH1 Ivone Leong Source NHS GMS was added to GCH1.
Source London North GLH was added to GCH1.
Likely inborn error of metabolism v1.47 GCDH Ivone Leong Source NHS GMS was added to GCDH.
Source London North GLH was added to GCDH.
Likely inborn error of metabolism v1.47 GBE1 Ivone Leong Source NHS GMS was added to GBE1.
Source London North GLH was added to GBE1.
Likely inborn error of metabolism v1.47 GBA Ivone Leong Source NHS GMS was added to GBA.
Source London North GLH was added to GBA.
Likely inborn error of metabolism v1.47 GATM Ivone Leong Source NHS GMS was added to GATM.
Source London North GLH was added to GATM.
Likely inborn error of metabolism v1.47 GAMT Ivone Leong Source NHS GMS was added to GAMT.
Source London North GLH was added to GAMT.
Likely inborn error of metabolism v1.47 GALT Ivone Leong Source NHS GMS was added to GALT.
Source London North GLH was added to GALT.
Likely inborn error of metabolism v1.47 GALNT3 Ivone Leong Source NHS GMS was added to GALNT3.
Source London North GLH was added to GALNT3.
Likely inborn error of metabolism v1.47 GALNT12 Ivone Leong Source NHS GMS was added to GALNT12.
Source London North GLH was added to GALNT12.
Likely inborn error of metabolism v1.47 GALNS Ivone Leong Source NHS GMS was added to GALNS.
Source London North GLH was added to GALNS.
Likely inborn error of metabolism v1.47 GALK1 Ivone Leong Source NHS GMS was added to GALK1.
Source London North GLH was added to GALK1.
Likely inborn error of metabolism v1.47 GALE Ivone Leong Source NHS GMS was added to GALE.
Source London North GLH was added to GALE.
Likely inborn error of metabolism v1.47 GALC Ivone Leong Source NHS GMS was added to GALC.
Source London North GLH was added to GALC.
Likely inborn error of metabolism v1.47 GAA Ivone Leong Source NHS GMS was added to GAA.
Source London North GLH was added to GAA.
Likely inborn error of metabolism v1.47 G6PC3 Ivone Leong Source NHS GMS was added to G6PC3.
Source London North GLH was added to G6PC3.
Likely inborn error of metabolism v1.47 G6PC Ivone Leong Source NHS GMS was added to G6PC.
Source London North GLH was added to G6PC.
Likely inborn error of metabolism v1.47 FXYD2 Ivone Leong Source NHS GMS was added to FXYD2.
Source London North GLH was added to FXYD2.
Likely inborn error of metabolism v1.47 FXN Ivone Leong Source NHS GMS was added to FXN.
Source London North GLH was added to FXN.
Likely inborn error of metabolism v1.47 FUCA1 Ivone Leong Source NHS GMS was added to FUCA1.
Source London North GLH was added to FUCA1.
Likely inborn error of metabolism v1.47 FTCD Ivone Leong Source NHS GMS was added to FTCD.
Source London North GLH was added to FTCD.
Likely inborn error of metabolism v1.47 FOXRED1 Ivone Leong Source NHS GMS was added to FOXRED1.
Source London North GLH was added to FOXRED1.
Likely inborn error of metabolism v1.47 FOLR1 Ivone Leong Source NHS GMS was added to FOLR1.
Source London North GLH was added to FOLR1.
Likely inborn error of metabolism v1.47 FMO3 Ivone Leong Source NHS GMS was added to FMO3.
Source London North GLH was added to FMO3.
Likely inborn error of metabolism v1.47 FKTN Ivone Leong Source NHS GMS was added to FKTN.
Source London North GLH was added to FKTN.
Likely inborn error of metabolism v1.47 FKRP Ivone Leong Source NHS GMS was added to FKRP.
Source London North GLH was added to FKRP.
Likely inborn error of metabolism v1.47 FH Ivone Leong Source NHS GMS was added to FH.
Source London North GLH was added to FH.
Likely inborn error of metabolism v1.47 FGFR2 Ivone Leong Source NHS GMS was added to FGFR2.
Source London North GLH was added to FGFR2.
Likely inborn error of metabolism v1.47 FECH Ivone Leong Source NHS GMS was added to FECH.
Source London North GLH was added to FECH.
Likely inborn error of metabolism v1.47 FBP1 Ivone Leong Source NHS GMS was added to FBP1.
Source London North GLH was added to FBP1.
Likely inborn error of metabolism v1.47 FASTKD2 Ivone Leong Source NHS GMS was added to FASTKD2.
Source London North GLH was added to FASTKD2.
Likely inborn error of metabolism v1.47 FARS2 Ivone Leong Source NHS GMS was added to FARS2.
Source London North GLH was added to FARS2.
Likely inborn error of metabolism v1.47 FAH Ivone Leong Source NHS GMS was added to FAH.
Source London North GLH was added to FAH.
Likely inborn error of metabolism v1.47 FA2H Ivone Leong Source NHS GMS was added to FA2H.
Source London North GLH was added to FA2H.
Likely inborn error of metabolism v1.47 EXT2 Ivone Leong Source NHS GMS was added to EXT2.
Source London North GLH was added to EXT2.
Likely inborn error of metabolism v1.47 EXT1 Ivone Leong Source NHS GMS was added to EXT1.
Source London North GLH was added to EXT1.
Likely inborn error of metabolism v1.47 ETHE1 Ivone Leong Source NHS GMS was added to ETHE1.
Source London North GLH was added to ETHE1.
Likely inborn error of metabolism v1.47 ETFDH Ivone Leong Source NHS GMS was added to ETFDH.
Source London North GLH was added to ETFDH.
Likely inborn error of metabolism v1.47 ETFB Ivone Leong Source NHS GMS was added to ETFB.
Source London North GLH was added to ETFB.
Likely inborn error of metabolism v1.47 ETFA Ivone Leong Source NHS GMS was added to ETFA.
Source London North GLH was added to ETFA.
Likely inborn error of metabolism v1.47 EPM2A Ivone Leong Source NHS GMS was added to EPM2A.
Source London North GLH was added to EPM2A.
Likely inborn error of metabolism v1.47 ENO3 Ivone Leong Source NHS GMS was added to ENO3.
Source London North GLH was added to ENO3.
Likely inborn error of metabolism v1.47 EGF Ivone Leong Source NHS GMS was added to EGF.
Source London North GLH was added to EGF.
Likely inborn error of metabolism v1.47 EBP Ivone Leong Source NHS GMS was added to EBP.
Source London North GLH was added to EBP.
Likely inborn error of metabolism v1.47 EARS2 Ivone Leong Source NHS GMS was added to EARS2.
Source London North GLH was added to EARS2.
Likely inborn error of metabolism v1.47 DPYS Ivone Leong Source NHS GMS was added to DPYS.
Source London North GLH was added to DPYS.
Likely inborn error of metabolism v1.47 DPYD Ivone Leong Source NHS GMS was added to DPYD.
Source London North GLH was added to DPYD.
Likely inborn error of metabolism v1.47 DPM3 Ivone Leong Source NHS GMS was added to DPM3.
Source London North GLH was added to DPM3.
Likely inborn error of metabolism v1.47 DPM1 Ivone Leong Source NHS GMS was added to DPM1.
Source London North GLH was added to DPM1.
Likely inborn error of metabolism v1.47 DPEP1 Ivone Leong Source NHS GMS was added to DPEP1.
Source London North GLH was added to DPEP1.
Likely inborn error of metabolism v1.47 DPAGT1 Ivone Leong Source NHS GMS was added to DPAGT1.
Source London North GLH was added to DPAGT1.
Likely inborn error of metabolism v1.47 DOLK Ivone Leong Source NHS GMS was added to DOLK.
Source London North GLH was added to DOLK.
Likely inborn error of metabolism v1.47 DNM1L Ivone Leong Source NHS GMS was added to DNM1L.
Source London North GLH was added to DNM1L.
Likely inborn error of metabolism v1.47 DNAJC5 Ivone Leong Source NHS GMS was added to DNAJC5.
Source London North GLH was added to DNAJC5.
Likely inborn error of metabolism v1.47 DNAJC19 Ivone Leong Source NHS GMS was added to DNAJC19.
Source London North GLH was added to DNAJC19.
Likely inborn error of metabolism v1.47 DMGDH Ivone Leong Source NHS GMS was added to DMGDH.
Source London North GLH was added to DMGDH.
Likely inborn error of metabolism v1.47 DLST Ivone Leong Source NHS GMS was added to DLST.
Source London North GLH was added to DLST.
Likely inborn error of metabolism v1.47 DLD Ivone Leong Source NHS GMS was added to DLD.
Source London North GLH was added to DLD.
Likely inborn error of metabolism v1.47 DLAT Ivone Leong Source NHS GMS was added to DLAT.
Source London North GLH was added to DLAT.
Likely inborn error of metabolism v1.47 DHTKD1 Ivone Leong Source NHS GMS was added to DHTKD1.
Source London North GLH was added to DHTKD1.
Likely inborn error of metabolism v1.47 DHODH Ivone Leong Source NHS GMS was added to DHODH.
Source London North GLH was added to DHODH.
Likely inborn error of metabolism v1.47 DHFR Ivone Leong Source NHS GMS was added to DHFR.
Source London North GLH was added to DHFR.
Likely inborn error of metabolism v1.47 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Source London North GLH was added to DHDDS.
Likely inborn error of metabolism v1.47 DHCR7 Ivone Leong Source NHS GMS was added to DHCR7.
Source London North GLH was added to DHCR7.
Likely inborn error of metabolism v1.47 DHCR24 Ivone Leong Source NHS GMS was added to DHCR24.
Source London North GLH was added to DHCR24.
Likely inborn error of metabolism v1.47 DGUOK Ivone Leong Source NHS GMS was added to DGUOK.
Source London North GLH was added to DGUOK.
Likely inborn error of metabolism v1.47 DDC Ivone Leong Source NHS GMS was added to DDC.
Source London North GLH was added to DDC.
Likely inborn error of metabolism v1.47 DCXR Ivone Leong Source NHS GMS was added to DCXR.
Source London North GLH was added to DCXR.
Likely inborn error of metabolism v1.47 DBT Ivone Leong Source NHS GMS was added to DBT.
Source London North GLH was added to DBT.
Likely inborn error of metabolism v1.47 DBH Ivone Leong Source NHS GMS was added to DBH.
Source London North GLH was added to DBH.
Likely inborn error of metabolism v1.47 DARS2 Ivone Leong Source NHS GMS was added to DARS2.
Source London North GLH was added to DARS2.
Likely inborn error of metabolism v1.47 D2HGDH Ivone Leong Source NHS GMS was added to D2HGDH.
Source London North GLH was added to D2HGDH.
Likely inborn error of metabolism v1.47 CYP7B1 Ivone Leong Source NHS GMS was added to CYP7B1.
Source London North GLH was added to CYP7B1.
Likely inborn error of metabolism v1.47 CYP7A1 Ivone Leong Source NHS GMS was added to CYP7A1.
Source London North GLH was added to CYP7A1.
Likely inborn error of metabolism v1.47 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Source London North GLH was added to CYP27A1.
Likely inborn error of metabolism v1.47 CUBN Ivone Leong Source NHS GMS was added to CUBN.
Source London North GLH was added to CUBN.
Likely inborn error of metabolism v1.47 CTSK Ivone Leong Source NHS GMS was added to CTSK.
Source London North GLH was added to CTSK.
Likely inborn error of metabolism v1.47 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Source London North GLH was added to CTSD.
Likely inborn error of metabolism v1.47 CTSC Ivone Leong Source NHS GMS was added to CTSC.
Source London North GLH was added to CTSC.
Likely inborn error of metabolism v1.47 CTSA Ivone Leong Source NHS GMS was added to CTSA.
Source London North GLH was added to CTSA.
Likely inborn error of metabolism v1.47 CTNS Ivone Leong Source NHS GMS was added to CTNS.
Source London North GLH was added to CTNS.
Likely inborn error of metabolism v1.47 CTH Ivone Leong Source NHS GMS was added to CTH.
Source London North GLH was added to CTH.
Likely inborn error of metabolism v1.47 CSTB Ivone Leong Source NHS GMS was added to CSTB.
Source London North GLH was added to CSTB.
Likely inborn error of metabolism v1.47 CPT2 Ivone Leong Source NHS GMS was added to CPT2.
Source London North GLH was added to CPT2.
Likely inborn error of metabolism v1.47 CPT1A Ivone Leong Source NHS GMS was added to CPT1A.
Source London North GLH was added to CPT1A.
Likely inborn error of metabolism v1.47 CPS1 Ivone Leong Source NHS GMS was added to CPS1.
Source London North GLH was added to CPS1.
Likely inborn error of metabolism v1.47 CPOX Ivone Leong Source NHS GMS was added to CPOX.
Source London North GLH was added to CPOX.
Likely inborn error of metabolism v1.47 CP Ivone Leong Source NHS GMS was added to CP.
Source London North GLH was added to CP.
Likely inborn error of metabolism v1.47 COX7B Ivone Leong Source NHS GMS was added to COX7B.
Source London North GLH was added to COX7B.
Likely inborn error of metabolism v1.47 COX6B1 Ivone Leong Source NHS GMS was added to COX6B1.
Source London North GLH was added to COX6B1.
Likely inborn error of metabolism v1.47 COX4I2 Ivone Leong Source NHS GMS was added to COX4I2.
Source London North GLH was added to COX4I2.
Likely inborn error of metabolism v1.47 COX20 Ivone Leong Source NHS GMS was added to COX20.
Source London North GLH was added to COX20.
Likely inborn error of metabolism v1.47 COX15 Ivone Leong Source NHS GMS was added to COX15.
Source London North GLH was added to COX15.
Likely inborn error of metabolism v1.47 COX14 Ivone Leong Source NHS GMS was added to COX14.
Source London North GLH was added to COX14.
Likely inborn error of metabolism v1.47 COX10 Ivone Leong Source NHS GMS was added to COX10.
Source London North GLH was added to COX10.
Likely inborn error of metabolism v1.47 COQ9 Ivone Leong Source NHS GMS was added to COQ9.
Source London North GLH was added to COQ9.
Likely inborn error of metabolism v1.47 COQ6 Ivone Leong Source NHS GMS was added to COQ6.
Source London North GLH was added to COQ6.
Likely inborn error of metabolism v1.47 COQ4 Ivone Leong Source NHS GMS was added to COQ4.
Source London North GLH was added to COQ4.
Likely inborn error of metabolism v1.47 COQ2 Ivone Leong Source NHS GMS was added to COQ2.
Source London North GLH was added to COQ2.
Likely inborn error of metabolism v1.47 COG8 Ivone Leong Source NHS GMS was added to COG8.
Source London North GLH was added to COG8.
Likely inborn error of metabolism v1.47 COG7 Ivone Leong Source NHS GMS was added to COG7.
Source London North GLH was added to COG7.
Likely inborn error of metabolism v1.47 COG6 Ivone Leong Source NHS GMS was added to COG6.
Source London North GLH was added to COG6.
Likely inborn error of metabolism v1.47 COG5 Ivone Leong Source NHS GMS was added to COG5.
Source London North GLH was added to COG5.
Likely inborn error of metabolism v1.47 COG4 Ivone Leong Source NHS GMS was added to COG4.
Source London North GLH was added to COG4.
Likely inborn error of metabolism v1.47 COG1 Ivone Leong Source NHS GMS was added to COG1.
Source London North GLH was added to COG1.
Likely inborn error of metabolism v1.47 COA5 Ivone Leong Source NHS GMS was added to COA5.
Source London North GLH was added to COA5.
Likely inborn error of metabolism v1.47 CNNM2 Ivone Leong Source NHS GMS was added to CNNM2.
Source London North GLH was added to CNNM2.
Likely inborn error of metabolism v1.47 CNDP1 Ivone Leong Source NHS GMS was added to CNDP1.
Source London North GLH was added to CNDP1.
Likely inborn error of metabolism v1.47 CLPS Ivone Leong Source NHS GMS was added to CLPS.
Source London North GLH was added to CLPS.
Likely inborn error of metabolism v1.47 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Source London North GLH was added to CLN8.
Likely inborn error of metabolism v1.47 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Source London North GLH was added to CLN6.
Likely inborn error of metabolism v1.47 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Source London North GLH was added to CLN5.
Likely inborn error of metabolism v1.47 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Source London North GLH was added to CLN3.
Likely inborn error of metabolism v1.47 CLDN19 Ivone Leong Source NHS GMS was added to CLDN19.
Source London North GLH was added to CLDN19.
Likely inborn error of metabolism v1.47 CLDN16 Ivone Leong Source NHS GMS was added to CLDN16.
Source London North GLH was added to CLDN16.
Likely inborn error of metabolism v1.47 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Source London North GLH was added to CISD2.
Likely inborn error of metabolism v1.47 CHSY1 Ivone Leong Source NHS GMS was added to CHSY1.
Source London North GLH was added to CHSY1.
Likely inborn error of metabolism v1.47 CHST6 Ivone Leong Source NHS GMS was added to CHST6.
Source London North GLH was added to CHST6.
Likely inborn error of metabolism v1.47 CHST3 Ivone Leong Source NHS GMS was added to CHST3.
Source London North GLH was added to CHST3.
Likely inborn error of metabolism v1.47 CHST14 Ivone Leong Source NHS GMS was added to CHST14.
Source London North GLH was added to CHST14.
Likely inborn error of metabolism v1.47 CHKB Ivone Leong Source NHS GMS was added to CHKB.
Source London North GLH was added to CHKB.
Likely inborn error of metabolism v1.47 CETP Ivone Leong Source NHS GMS was added to CETP.
Source London North GLH was added to CETP.
Likely inborn error of metabolism v1.47 CD320 Ivone Leong Source NHS GMS was added to CD320.
Source London North GLH was added to CD320.
Likely inborn error of metabolism v1.47 CBS Ivone Leong Source NHS GMS was added to CBS.
Source London North GLH was added to CBS.
Likely inborn error of metabolism v1.47 CAT Ivone Leong Source NHS GMS was added to CAT.
Source London North GLH was added to CAT.
Likely inborn error of metabolism v1.47 CA5A Ivone Leong Source NHS GMS was added to CA5A.
Source London North GLH was added to CA5A.
Likely inborn error of metabolism v1.47 C1GALT1C1 Ivone Leong Source NHS GMS was added to C1GALT1C1.
Source London North GLH was added to C1GALT1C1.
Likely inborn error of metabolism v1.47 C19orf12 Ivone Leong Source NHS GMS was added to C19orf12.
Source London North GLH was added to C19orf12.
Likely inborn error of metabolism v1.47 C12orf65 Ivone Leong Source NHS GMS was added to C12orf65.
Source London North GLH was added to C12orf65.
Likely inborn error of metabolism v1.47 TWNK Ivone Leong Source NHS GMS was added to TWNK.
Source London North GLH was added to TWNK.
Likely inborn error of metabolism v1.47 BTD Ivone Leong Source NHS GMS was added to BTD.
Source London North GLH was added to BTD.
Likely inborn error of metabolism v1.47 BOLA3 Ivone Leong Source NHS GMS was added to BOLA3.
Source London North GLH was added to BOLA3.
Likely inborn error of metabolism v1.47 BCS1L Ivone Leong Source NHS GMS was added to BCS1L.
Source London North GLH was added to BCS1L.
Likely inborn error of metabolism v1.47 BCKDHB Ivone Leong Source NHS GMS was added to BCKDHB.
Source London North GLH was added to BCKDHB.
Likely inborn error of metabolism v1.47 BCKDHA Ivone Leong Source NHS GMS was added to BCKDHA.
Source London North GLH was added to BCKDHA.
Likely inborn error of metabolism v1.47 BCAT2 Ivone Leong Source NHS GMS was added to BCAT2.
Source London North GLH was added to BCAT2.
Likely inborn error of metabolism v1.47 BCAT1 Ivone Leong Source NHS GMS was added to BCAT1.
Source London North GLH was added to BCAT1.
Likely inborn error of metabolism v1.47 BAAT Ivone Leong Source NHS GMS was added to BAAT.
Source London North GLH was added to BAAT.
Likely inborn error of metabolism v1.47 B4GALT7 Ivone Leong Source NHS GMS was added to B4GALT7.
Source London North GLH was added to B4GALT7.
Likely inborn error of metabolism v1.47 B4GALT1 Ivone Leong Source NHS GMS was added to B4GALT1.
Source London North GLH was added to B4GALT1.
Likely inborn error of metabolism v1.47 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Source London North GLH was added to B3GLCT.
Likely inborn error of metabolism v1.47 B3GAT3 Ivone Leong Source NHS GMS was added to B3GAT3.
Source London North GLH was added to B3GAT3.
Likely inborn error of metabolism v1.47 AUH Ivone Leong Source NHS GMS was added to AUH.
Source London North GLH was added to AUH.
Likely inborn error of metabolism v1.47 ATXN7 Ivone Leong Source NHS GMS was added to ATXN7.
Source London North GLH was added to ATXN7.
Likely inborn error of metabolism v1.47 ATPAF2 Ivone Leong Source NHS GMS was added to ATPAF2.
Source London North GLH was added to ATPAF2.
Likely inborn error of metabolism v1.47 ATP8B1 Ivone Leong Source NHS GMS was added to ATP8B1.
Source London North GLH was added to ATP8B1.
Likely inborn error of metabolism v1.47 ATP7B Ivone Leong Source NHS GMS was added to ATP7B.
Source London North GLH was added to ATP7B.
Likely inborn error of metabolism v1.47 ATP7A Ivone Leong Source NHS GMS was added to ATP7A.
Source London North GLH was added to ATP7A.
Likely inborn error of metabolism v1.47 ATP6V0A2 Ivone Leong Source NHS GMS was added to ATP6V0A2.
Source London North GLH was added to ATP6V0A2.
Likely inborn error of metabolism v1.47 ATP5E Ivone Leong Source NHS GMS was added to ATP5E.
Source London North GLH was added to ATP5E.
Likely inborn error of metabolism v1.47 ATP5A1 Ivone Leong Source NHS GMS was added to ATP5A1.
Source London North GLH was added to ATP5A1.
Likely inborn error of metabolism v1.47 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Source London North GLH was added to ATP13A2.
Likely inborn error of metabolism v1.47 ATIC Ivone Leong Source NHS GMS was added to ATIC.
Source London North GLH was added to ATIC.
Likely inborn error of metabolism v1.47 ASS1 Ivone Leong Source NHS GMS was added to ASS1.
Source London North GLH was added to ASS1.
Likely inborn error of metabolism v1.47 ASPA Ivone Leong Source NHS GMS was added to ASPA.
Source London North GLH was added to ASPA.
Likely inborn error of metabolism v1.47 ASL Ivone Leong Source NHS GMS was added to ASL.
Source London North GLH was added to ASL.
Likely inborn error of metabolism v1.47 ASAH1 Ivone Leong Source NHS GMS was added to ASAH1.
Source London North GLH was added to ASAH1.
Likely inborn error of metabolism v1.47 ARSB Ivone Leong Source NHS GMS was added to ARSB.
Source London North GLH was added to ARSB.
Likely inborn error of metabolism v1.47 ARSA Ivone Leong Source NHS GMS was added to ARSA.
Source London North GLH was added to ARSA.
Likely inborn error of metabolism v1.47 ARG1 Ivone Leong Source NHS GMS was added to ARG1.
Source London North GLH was added to ARG1.
Likely inborn error of metabolism v1.47 APTX Ivone Leong Source NHS GMS was added to APTX.
Source London North GLH was added to APTX.
Likely inborn error of metabolism v1.47 APRT Ivone Leong Source NHS GMS was added to APRT.
Source London North GLH was added to APRT.
Likely inborn error of metabolism v1.47 APOE Ivone Leong Source NHS GMS was added to APOE.
Source London North GLH was added to APOE.
Likely inborn error of metabolism v1.47 APOC2 Ivone Leong Source NHS GMS was added to APOC2.
Source London North GLH was added to APOC2.
Likely inborn error of metabolism v1.47 APOB Ivone Leong Source NHS GMS was added to APOB.
Source London North GLH was added to APOB.
Likely inborn error of metabolism v1.47 APOA5 Ivone Leong Source NHS GMS was added to APOA5.
Source London North GLH was added to APOA5.
Likely inborn error of metabolism v1.47 APOA1 Ivone Leong Source NHS GMS was added to APOA1.
Source London North GLH was added to APOA1.
Likely inborn error of metabolism v1.47 AOX1 Ivone Leong Source NHS GMS was added to AOX1.
Source London North GLH was added to AOX1.
Likely inborn error of metabolism v1.47 AMT Ivone Leong Source NHS GMS was added to AMT.
Source London North GLH was added to AMT.
Likely inborn error of metabolism v1.47 AMPD1 Ivone Leong Source NHS GMS was added to AMPD1.
Source London North GLH was added to AMPD1.
Likely inborn error of metabolism v1.47 AMN Ivone Leong Source NHS GMS was added to AMN.
Source London North GLH was added to AMN.
Likely inborn error of metabolism v1.47 AMACR Ivone Leong Source NHS GMS was added to AMACR.
Source London North GLH was added to AMACR.
Likely inborn error of metabolism v1.47 ALPL Ivone Leong Source NHS GMS was added to ALPL.
Source London North GLH was added to ALPL.
Likely inborn error of metabolism v1.47 ALG9 Ivone Leong Source NHS GMS was added to ALG9.
Source London North GLH was added to ALG9.
Likely inborn error of metabolism v1.47 ALG8 Ivone Leong Source NHS GMS was added to ALG8.
Source London North GLH was added to ALG8.
Likely inborn error of metabolism v1.47 ALG6 Ivone Leong Source NHS GMS was added to ALG6.
Source London North GLH was added to ALG6.
Likely inborn error of metabolism v1.47 ALG3 Ivone Leong Source NHS GMS was added to ALG3.
Source London North GLH was added to ALG3.
Likely inborn error of metabolism v1.47 ALG2 Ivone Leong Source NHS GMS was added to ALG2.
Source London North GLH was added to ALG2.
Likely inborn error of metabolism v1.47 ALG14 Ivone Leong Source NHS GMS was added to ALG14.
Source London North GLH was added to ALG14.
Likely inborn error of metabolism v1.47 ALG13 Ivone Leong Source NHS GMS was added to ALG13.
Source London North GLH was added to ALG13.
Likely inborn error of metabolism v1.47 ALG12 Ivone Leong Source NHS GMS was added to ALG12.
Source London North GLH was added to ALG12.
Likely inborn error of metabolism v1.47 ALG11 Ivone Leong Source NHS GMS was added to ALG11.
Source London North GLH was added to ALG11.
Likely inborn error of metabolism v1.47 ALG1 Ivone Leong Source NHS GMS was added to ALG1.
Source London North GLH was added to ALG1.
Likely inborn error of metabolism v1.47 ALDOB Ivone Leong Source NHS GMS was added to ALDOB.
Source London North GLH was added to ALDOB.
Likely inborn error of metabolism v1.47 ALDOA Ivone Leong Source NHS GMS was added to ALDOA.
Source London North GLH was added to ALDOA.
Likely inborn error of metabolism v1.47 ALDH7A1 Ivone Leong Source NHS GMS was added to ALDH7A1.
Source London North GLH was added to ALDH7A1.
Likely inborn error of metabolism v1.47 ALDH6A1 Ivone Leong Source NHS GMS was added to ALDH6A1.
Source London North GLH was added to ALDH6A1.
Likely inborn error of metabolism v1.47 ALDH5A1 Ivone Leong Source NHS GMS was added to ALDH5A1.
Source London North GLH was added to ALDH5A1.
Likely inborn error of metabolism v1.47 ALDH4A1 Ivone Leong Source NHS GMS was added to ALDH4A1.
Source London North GLH was added to ALDH4A1.
Likely inborn error of metabolism v1.47 ALDH3A2 Ivone Leong Source NHS GMS was added to ALDH3A2.
Source London North GLH was added to ALDH3A2.
Likely inborn error of metabolism v1.47 ALDH18A1 Ivone Leong Source NHS GMS was added to ALDH18A1.
Source London North GLH was added to ALDH18A1.
Likely inborn error of metabolism v1.47 ALAS2 Ivone Leong Source NHS GMS was added to ALAS2.
Source London North GLH was added to ALAS2.
Likely inborn error of metabolism v1.47 ALAD Ivone Leong Source NHS GMS was added to ALAD.
Source London North GLH was added to ALAD.
Likely inborn error of metabolism v1.47 AKR1D1 Ivone Leong Source NHS GMS was added to AKR1D1.
Source London North GLH was added to AKR1D1.
Likely inborn error of metabolism v1.47 AIFM1 Ivone Leong Source NHS GMS was added to AIFM1.
Source London North GLH was added to AIFM1.
Likely inborn error of metabolism v1.47 AHCY Ivone Leong Source NHS GMS was added to AHCY.
Source London North GLH was added to AHCY.
Likely inborn error of metabolism v1.47 AGXT Ivone Leong Source NHS GMS was added to AGXT.
Source London North GLH was added to AGXT.
Likely inborn error of metabolism v1.47 AGPS Ivone Leong Source NHS GMS was added to AGPS.
Source London North GLH was added to AGPS.
Likely inborn error of metabolism v1.47 AGL Ivone Leong Source NHS GMS was added to AGL.
Source London North GLH was added to AGL.
Likely inborn error of metabolism v1.47 AGK Ivone Leong Source NHS GMS was added to AGK.
Source London North GLH was added to AGK.
Likely inborn error of metabolism v1.47 AGA Ivone Leong Source NHS GMS was added to AGA.
Source London North GLH was added to AGA.
Likely inborn error of metabolism v1.47 AFG3L2 Ivone Leong Source NHS GMS was added to AFG3L2.
Source London North GLH was added to AFG3L2.
Likely inborn error of metabolism v1.47 ADSL Ivone Leong Source NHS GMS was added to ADSL.
Source London North GLH was added to ADSL.
Likely inborn error of metabolism v1.47 COQ8A Ivone Leong Source NHS GMS was added to COQ8A.
Source London North GLH was added to COQ8A.
Likely inborn error of metabolism v1.47 ADAR Ivone Leong Source NHS GMS was added to ADAR.
Source London North GLH was added to ADAR.
Likely inborn error of metabolism v1.47 ADA Ivone Leong Source NHS GMS was added to ADA.
Source London North GLH was added to ADA.
Likely inborn error of metabolism v1.47 ACY1 Ivone Leong Source NHS GMS was added to ACY1.
Source London North GLH was added to ACY1.
Likely inborn error of metabolism v1.47 ACSF3 Ivone Leong Source NHS GMS was added to ACSF3.
Source London North GLH was added to ACSF3.
Likely inborn error of metabolism v1.47 ACOX1 Ivone Leong Source NHS GMS was added to ACOX1.
Source London North GLH was added to ACOX1.
Likely inborn error of metabolism v1.47 ACAT1 Ivone Leong Source NHS GMS was added to ACAT1.
Source London North GLH was added to ACAT1.
Likely inborn error of metabolism v1.47 ACADVL Ivone Leong Source NHS GMS was added to ACADVL.
Source London North GLH was added to ACADVL.
Likely inborn error of metabolism v1.47 ACADSB Ivone Leong Source NHS GMS was added to ACADSB.
Source London North GLH was added to ACADSB.
Likely inborn error of metabolism v1.47 ACADS Ivone Leong Source NHS GMS was added to ACADS.
Source London North GLH was added to ACADS.
Likely inborn error of metabolism v1.47 ACADM Ivone Leong Source NHS GMS was added to ACADM.
Source London North GLH was added to ACADM.
Likely inborn error of metabolism v1.47 ACAD9 Ivone Leong Source NHS GMS was added to ACAD9.
Source London North GLH was added to ACAD9.
Likely inborn error of metabolism v1.47 ACAD8 Ivone Leong Source NHS GMS was added to ACAD8.
Source London North GLH was added to ACAD8.
Likely inborn error of metabolism v1.47 ABHD5 Ivone Leong Source NHS GMS was added to ABHD5.
Source London North GLH was added to ABHD5.
Likely inborn error of metabolism v1.47 ABHD12 Ivone Leong Source NHS GMS was added to ABHD12.
Source London North GLH was added to ABHD12.
Likely inborn error of metabolism v1.47 ABCG8 Ivone Leong Source NHS GMS was added to ABCG8.
Source London North GLH was added to ABCG8.
Likely inborn error of metabolism v1.47 ABCG5 Ivone Leong Source NHS GMS was added to ABCG5.
Source London North GLH was added to ABCG5.
Likely inborn error of metabolism v1.47 ABCG2 Ivone Leong Source NHS GMS was added to ABCG2.
Source London North GLH was added to ABCG2.
Likely inborn error of metabolism v1.47 ABCD4 Ivone Leong Source NHS GMS was added to ABCD4.
Source London North GLH was added to ABCD4.
Likely inborn error of metabolism v1.47 ABCD1 Ivone Leong Source NHS GMS was added to ABCD1.
Source London North GLH was added to ABCD1.
Likely inborn error of metabolism v1.47 ABCB7 Ivone Leong Source NHS GMS was added to ABCB7.
Source London North GLH was added to ABCB7.
Likely inborn error of metabolism v1.47 ABCB4 Ivone Leong Source NHS GMS was added to ABCB4.
Source London North GLH was added to ABCB4.
Likely inborn error of metabolism v1.47 ABCB11 Ivone Leong Source NHS GMS was added to ABCB11.
Source London North GLH was added to ABCB11.
Likely inborn error of metabolism v1.47 ABCA1 Ivone Leong Source NHS GMS was added to ABCA1.
Source London North GLH was added to ABCA1.
Likely inborn error of metabolism v1.47 ABAT Ivone Leong Source NHS GMS was added to ABAT.
Source London North GLH was added to ABAT.
Likely inborn error of metabolism v1.47 AASS Ivone Leong Source NHS GMS was added to AASS.
Source London North GLH was added to AASS.
Likely inborn error of metabolism v1.47 AARS2 Ivone Leong Source NHS GMS was added to AARS2.
Source London North GLH was added to AARS2.
Neuronal ceroid lipofuscinosis v0.3 TPP1 Emma Ashton reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 PPT1 Emma Ashton reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 MFSD8 Emma Ashton reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 KCTD7 Emma Ashton reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 GRN Emma Ashton reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 DNAJC5 Emma Ashton reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CTSF Emma Ashton reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CTSD Emma Ashton reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN8 Emma Ashton reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN6 Emma Ashton reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN5 Emma Ashton reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLN3 Emma Ashton reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 CLCN6 Emma Ashton reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Neuronal ceroid lipofuscinosis v0.3 ATP13A2 Emma Ashton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Inherited breast cancer and ovarian cancer v0.1 PALB2 Ellen McDonagh gene: PALB2 was added
gene: PALB2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480
Inherited breast cancer and ovarian cancer v0.1 BRCA2 Ellen McDonagh gene: BRCA2 was added
gene: BRCA2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA2 were set to Breast and Ovarian Cancer; Breast cancer; {Breast cancer, male, susceptibility to}, 114480; Hereditary Breast and Ovarian Cancer Syndrome; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer; {Medulloblastoma}, 155255; Prostate cancer, 176807; {Breast-ovarian cancer, familial, 2}, 612555; High Risk Breast Cancer; Fanconi anemia, complementation group D1, 605724; Wilms tumor, 194070
Inherited breast cancer and ovarian cancer v0.1 BRCA1 Ellen McDonagh gene: BRCA1 was added
gene: BRCA1 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer
Neuronal ceroid lipofuscinosis v0.2 TPP1 Ivone Leong gene: TPP1 was added
gene: TPP1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 PPT1 Ivone Leong gene: PPT1 was added
gene: PPT1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 MFSD8 Ivone Leong gene: MFSD8 was added
gene: MFSD8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 KCTD7 Ivone Leong gene: KCTD7 was added
gene: KCTD7 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 GRN Ivone Leong gene: GRN was added
gene: GRN was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 DNAJC5 Ivone Leong gene: DNAJC5 was added
gene: DNAJC5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neuronal ceroid lipofuscinosis v0.2 CTSF Ivone Leong gene: CTSF was added
gene: CTSF was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CTSD Ivone Leong gene: CTSD was added
gene: CTSD was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN8 Ivone Leong gene: CLN8 was added
gene: CLN8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN6 Ivone Leong gene: CLN6 was added
gene: CLN6 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN5 Ivone Leong gene: CLN5 was added
gene: CLN5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLN3 Ivone Leong gene: CLN3 was added
gene: CLN3 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Neuronal ceroid lipofuscinosis v0.2 CLCN6 Ivone Leong gene: CLCN6 was added
gene: CLCN6 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: CLCN6 was set to Unknown
Neuronal ceroid lipofuscinosis v0.2 ATP13A2 Ivone Leong gene: ATP13A2 was added
gene: ATP13A2 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Inherited breast cancer and ovarian cancer v0.0 Ellen McDonagh Added Panel Inherited breast cancer and ovarian cancer
Set panel types to: GMS Rare Disease
Lysosomal storage disorder v0.3 TPP1 Emma Ashton reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 SUMF1 Emma Ashton reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SMPD1 Emma Ashton reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SLC17A5 Emma Ashton reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SGSH Emma Ashton reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 PSAP Emma Ashton reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 PPT1 Emma Ashton reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NPC2 Emma Ashton reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NPC1 Emma Ashton reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NEU1 Emma Ashton reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NAGLU Emma Ashton reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NAGA Emma Ashton reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 MFSD8 Emma Ashton reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 MCOLN1 Emma Ashton reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MANBA Emma Ashton reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MAN2B1 Emma Ashton reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 LIPA Emma Ashton reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 IDUA Emma Ashton reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 IDS Emma Ashton reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Lysosomal storage disorder v0.3 HYAL1 Emma Ashton reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HGSNAT Emma Ashton reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HEXB Emma Ashton reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HEXA Emma Ashton reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GUSB Emma Ashton reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNS Emma Ashton reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNPTG Emma Ashton reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNPTAB Emma Ashton reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNE Emma Ashton reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GM2A Emma Ashton reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GLB1 Emma Ashton reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GLA Emma Ashton reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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
Lysosomal storage disorder v0.3 GBA Emma Ashton reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GALNS Emma Ashton reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GALC Emma Ashton reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GAA Emma Ashton reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 FUCA1 Emma Ashton reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 DNAJC5 Emma Ashton reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Lysosomal storage disorder v0.3 CTSK Emma Ashton reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTSD Emma Ashton reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CTSA Emma Ashton reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTNS Emma Ashton reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN8 Emma Ashton reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN6 Emma Ashton reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN5 Emma Ashton reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 CLN3 Emma Ashton reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 ASAH1 Emma Ashton reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSG Emma Ashton reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSB Emma Ashton reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSA Emma Ashton reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 AGA Emma Ashton reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 TPP1 Carol Hardy reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SUMF1 Carol Hardy reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple sulfatase deficiency 272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 SMPD1 Carol Hardy reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type A 257200, Niemann-Pick disease, type B 607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 SLC17A5 Carol Hardy reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Salla disease 604369, Sialic acid storage disorder, infantile 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 SGSH Carol Hardy reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 PSAP Carol Hardy reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical 610539, Krabbe disease, atypical 611722, Metachromatic leukodystrophy due to SAP-b deficiency 249900
; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 PPT1 Carol Hardy reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 1 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NPC2 Carol Hardy reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-pick disease, type C2 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NPC1 Carol Hardy reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type C1 257220, Niemann-Pick disease, type D 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NEU1 Carol Hardy reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sialidosis, type I 256550, Sialidosis, type II 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 NAGLU Carol Hardy reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 NAGA Carol Hardy reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Schindler disease, type III 609241, Schindler disease, type I 609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MFSD8 Carol Hardy reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 7 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MCOLN1 Carol Hardy reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 MANBA Carol Hardy reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, beta 248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 MAN2B1 Carol Hardy reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II 248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 LIPA Carol Hardy reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cholesteryl ester storage disease 278000, Wolman disease 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 LAMP2 Carol Hardy reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Danon disease 300257; Mode of inheritance: ; Current diagnostic: yes
Lysosomal storage disorder v0.3 IDUA Carol Hardy reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Ih/s 607015, Mucopolysaccharidosis Is 607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 IDS Carol Hardy reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis II 309900; Mode of inheritance:
Lysosomal storage disorder v0.3 HYAL1 Carol Hardy reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mucopolysaccharidosis type IX 601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HGSNAT Carol Hardy reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 HEXB Carol Hardy reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 HEXA Carol Hardy reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GUSB Carol Hardy reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis VII 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNS Carol Hardy reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID 252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GNPTG Carol Hardy reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GNPTAB Carol Hardy reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis II alpha/beta 252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GNE Carol Hardy reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nonaka myopathy 605820, Sialuria 269921 (AD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 GM2A Carol Hardy reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant 272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GLB1 Carol Hardy reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GLA Carol Hardy reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease 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)
Lysosomal storage disorder v0.3 GBA Carol Hardy reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaucher disease, perinatal lethal 608013, Gaucher disease, type I 230800, Gaucher disease, type II 230900, Gaucher disease, type III 231000, Gaucher disease, type IIIC 231005

; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GALNS Carol Hardy reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis IVA 253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GALC Carol Hardy reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 GAA Carol Hardy reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease II 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 FUCA1 Carol Hardy reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fucosidosis 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 DNAJC5 Carol Hardy reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal storage disorder v0.3 CTSK Carol Hardy reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pycnodysostosis 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTSD Carol Hardy reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTSA Carol Hardy reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CTNS Carol Hardy reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cystinosis, atypical nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900, Cystinosis, nephropathic 219800, Cystinosis, ocular nonnephropathic 219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN8 Carol Hardy reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN6 Carol Hardy reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN5 Carol Hardy reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 CLN3 Carol Hardy reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ASAH1 Carol Hardy reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Farber lipogranulomatosis 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.3 ARSB Carol Hardy reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 ARSA Carol Hardy reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lysosomal storage disorder v0.3 AGA Carol Hardy reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.2 ARSG Ivone Leong gene: ARSG was added
gene: ARSG was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Amber
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v0.2 TPP1 Ivone Leong gene: TPP1 was added
gene: TPP1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500
Lysosomal storage disorder v0.2 SUMF1 Ivone Leong gene: SUMF1 was added
gene: SUMF1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200
Lysosomal storage disorder v0.2 SMPD1 Ivone Leong gene: SMPD1 was added
gene: SMPD1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616
Lysosomal storage disorder v0.2 SLC17A5 Ivone Leong gene: SLC17A5 was added
gene: SLC17A5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Salla disease 604369; Sialic acid storage disorder, infantile 269920
Lysosomal storage disorder v0.2 SGSH Ivone Leong gene: SGSH was added
gene: SGSH was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900
Lysosomal storage disorder v0.2 PSAP Ivone Leong gene: PSAP was added
gene: PSAP was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900
Lysosomal storage disorder v0.2 PPT1 Ivone Leong gene: PPT1 was added
gene: PPT1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Lysosomal storage disorder v0.2 NPC2 Ivone Leong gene: NPC2 was added
gene: NPC2 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625
Lysosomal storage disorder v0.2 NPC1 Ivone Leong gene: NPC1 was added
gene: NPC1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220
Lysosomal storage disorder v0.2 NEU1 Ivone Leong gene: NEU1 was added
gene: NEU1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type II 256550; Sialidosis, type I 256550
Lysosomal storage disorder v0.2 NAGLU Ivone Leong gene: NAGLU was added
gene: NAGLU was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Lysosomal storage disorder v0.2 NAGA Ivone Leong gene: NAGA was added
gene: NAGA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I 609241; Schindler disease, type III 609241
Lysosomal storage disorder v0.2 MFSD8 Ivone Leong gene: MFSD8 was added
gene: MFSD8 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Lysosomal storage disorder v0.2 MCOLN1 Ivone Leong gene: MCOLN1 was added
gene: MCOLN1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV 252650
Lysosomal storage disorder v0.2 MANBA Ivone Leong gene: MANBA was added
gene: MANBA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510
Lysosomal storage disorder v0.2 MAN2B1 Ivone Leong gene: MAN2B1 was added
gene: MAN2B1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500
Lysosomal storage disorder v0.2 LIPA Ivone Leong gene: LIPA was added
gene: LIPA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease 278000; Wolman disease 278000
Lysosomal storage disorder v0.2 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Lysosomal storage disorder. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: LAMP2 was set to
Phenotypes for gene: LAMP2 were set to Danon disease 300257
Lysosomal storage disorder v0.2 IDUA Ivone Leong gene: IDUA was added
gene: IDUA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015
Lysosomal storage disorder v0.2 IDS Ivone Leong gene: IDS was added
gene: IDS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II 309900
Lysosomal storage disorder v0.2 HYAL1 Ivone Leong gene: HYAL1 was added
gene: HYAL1 was added to Lysosomal storage disorder. Sources: North London GLH,Wessex and West Midlands GLH,Expert Review Amber,NHS GMS
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX 601492
Lysosomal storage disorder v0.2 HGSNAT Ivone Leong gene: HGSNAT was added
gene: HGSNAT was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Lysosomal storage disorder v0.2 HEXB Ivone Leong gene: HEXB was added
gene: HEXB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms 268800
Lysosomal storage disorder v0.2 HEXA Ivone Leong gene: HEXA was added
gene: HEXA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800
Lysosomal storage disorder v0.2 GUSB Ivone Leong gene: GUSB was added
gene: GUSB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII 253220
Lysosomal storage disorder v0.2 GNS Ivone Leong gene: GNS was added
gene: GNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940
Lysosomal storage disorder v0.2 GNPTG Ivone Leong gene: GNPTG was added
gene: GNPTG was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma 252605
Lysosomal storage disorder v0.2 GNPTAB Ivone Leong gene: GNPTAB was added
gene: GNPTAB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta 252500
Lysosomal storage disorder v0.2 GNE Ivone Leong gene: GNE was added
gene: GNE was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Sialuria 269921 (AD); Nonaka myopathy 605820
Lysosomal storage disorder v0.2 GM2A Ivone Leong gene: GM2A was added
gene: GM2A was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant 272750
Lysosomal storage disorder v0.2 GLB1 Ivone Leong gene: GLB1 was added
gene: GLB1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600
Lysosomal storage disorder v0.2 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease 301500
Lysosomal storage disorder v0.2 GBA Ivone Leong gene: GBA was added
gene: GBA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900
Lysosomal storage disorder v0.2 GALNS Ivone Leong gene: GALNS was added
gene: GALNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA 253000
Lysosomal storage disorder v0.2 GALC Ivone Leong gene: GALC was added
gene: GALC was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease 245200
Lysosomal storage disorder v0.2 GAA Ivone Leong gene: GAA was added
gene: GAA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Lysosomal storage disorder v0.2 FUCA1 Ivone Leong gene: FUCA1 was added
gene: FUCA1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis 230000
Lysosomal storage disorder v0.2 DNAJC5 Ivone Leong gene: DNAJC5 was added
gene: DNAJC5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Lysosomal storage disorder v0.2 CTSK Ivone Leong gene: CTSK was added
gene: CTSK was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800
Lysosomal storage disorder v0.2 CTSD Ivone Leong gene: CTSD was added
gene: CTSD was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10 610127
Lysosomal storage disorder v0.2 CTSA Ivone Leong gene: CTSA was added
gene: CTSA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis 256540
Lysosomal storage disorder v0.2 CTNS Ivone Leong gene: CTNS was added
gene: CTNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750
Lysosomal storage disorder v0.2 CLN8 Ivone Leong gene: CLN8 was added
gene: CLN8 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Lysosomal storage disorder v0.2 CLN6 Ivone Leong gene: CLN6 was added
gene: CLN6 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
Lysosomal storage disorder v0.2 CLN5 Ivone Leong gene: CLN5 was added
gene: CLN5 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5 256731
Lysosomal storage disorder v0.2 CLN3 Ivone Leong gene: CLN3 was added
gene: CLN3 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200
Lysosomal storage disorder v0.2 ASAH1 Ivone Leong gene: ASAH1 was added
gene: ASAH1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis 228000
Lysosomal storage disorder v0.2 ARSB Ivone Leong gene: ARSB was added
gene: ARSB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Lysosomal storage disorder v0.2 ARSA Ivone Leong gene: ARSA was added
gene: ARSA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy 250100
Lysosomal storage disorder v0.2 AGA Ivone Leong gene: AGA was added
gene: AGA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria 208400
Glycogen storage disease v0.3 PYGM Emma Ashton reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 PYGL Emma Ashton reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 PHKG2 Emma Ashton reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 PHKB Emma Ashton reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 PHKA2 Emma Ashton reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen storage disease v0.3 PHKA1 Emma Ashton reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glycogen storage disease v0.3 PGAM2 Emma Ashton reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 PFKM Emma Ashton reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 LDHA Emma Ashton reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 LAMP2 Emma Ashton reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Glycogen storage disease v0.3 GYS2 Emma Ashton reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 GYS1 Emma Ashton reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 GBE1 Emma Ashton reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 GAA Emma Ashton reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 G6PC Emma Ashton reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 ENO3 Emma Ashton reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 ALDOA Emma Ashton reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 AGL Emma Ashton reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 ALDOB Carol Hardy reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: ; Publications: 26677512; Phenotypes: Fructose intolerance, hereditary 229600 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease v0.3 SLC37A4 Carol Hardy reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301489; Phenotypes: Glycogen storage disease Ib 232220, Glycogen storage disease Ic 232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 SLC2A2 Carol Hardy reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi-Bickel syndrome 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PYGM Carol Hardy reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301518; Phenotypes: Glycogen storage disease V 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PYGL Carol Hardy reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301760; Phenotypes: Glycogen storage disease VI 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PRKAG2 Carol Hardy reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease of heart, lethal congenital 261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Glycogen storage disease v0.3 PHKG2 Carol Hardy reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease IXc 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PHKB Carol Hardy reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PHKA2 Carol Hardy reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Glycogen storage disease, type IXa1 306000, Glycogen storage disease, type IXa2 306000 ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Glycogen storage disease v0.3 PHKA1 Carol Hardy reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21634085; Phenotypes: Muscle glycogenosis 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Glycogen storage disease v0.3 PGM1 Carol Hardy reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type It 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PGK1 Carol Hardy reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Glycogen storage disease v0.3 PGAM2 Carol Hardy reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease X 261670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 PFKM Carol Hardy reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease VII 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 NHLRC1 Carol Hardy reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 LDHA Carol Hardy reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XI 612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 LAMP2 Carol Hardy reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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
Glycogen storage disease v0.3 GYS2 Carol Hardy reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease 0, liver 240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 GYS1 Carol Hardy reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease 0, muscle 611556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 GYG1 Carol Hardy reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XV 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 GBE1 Carol Hardy reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23285490; Phenotypes: Glycogen storage disease IV 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 GAA Carol Hardy reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301438; Phenotypes: Glycogen storage disease II 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 G6PC Carol Hardy reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301489; Phenotypes: Glycogen storage disease Ia 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 FBP1 Carol Hardy reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 EPM2A Carol Hardy reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 ENO3 Carol Hardy reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XIII 612932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 ALDOA Carol Hardy reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease XII 611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.3 AGL Carol Hardy reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301788; Phenotypes: Glycogen storage disease IIIa, 232400, Glycogen storage disease IIIb, 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Glycogen storage disease v0.2 ALDOB Ivone Leong gene: ALDOB was added
gene: ALDOB was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOB were set to 26677512
Phenotypes for gene: ALDOB were set to Fructose intolerance, hereditary 229600
Glycogen storage disease v0.2 SLC37A4 Ivone Leong gene: SLC37A4 was added
gene: SLC37A4 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC37A4 were set to 20301489
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic 232240; Glycogen storage disease Ib 232220
Glycogen storage disease v0.2 SLC2A2 Ivone Leong gene: SLC2A2 was added
gene: SLC2A2 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome 227810
Glycogen storage disease v0.2 PYGM Ivone Leong gene: PYGM was added
gene: PYGM was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to 20301518
Phenotypes for gene: PYGM were set to Glycogen storage disease V 232600
Glycogen storage disease v0.2 PYGL Ivone Leong gene: PYGL was added
gene: PYGL was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGL were set to 20301760
Phenotypes for gene: PYGL were set to Glycogen storage disease VI 232700
Glycogen storage disease v0.2 PRKAG2 Ivone Leong gene: PRKAG2 was added
gene: PRKAG2 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Glycogen storage disease of heart, lethal congenital 261740
Glycogen storage disease v0.2 PHKG2 Ivone Leong gene: PHKG2 was added
gene: PHKG2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKG2 were set to 21634085
Phenotypes for gene: PHKG2 were set to Glycogen storage disease IXc 613027
Glycogen storage disease v0.2 PHKB Ivone Leong gene: PHKB was added
gene: PHKB was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKB were set to 21634085
Phenotypes for gene: PHKB were set to Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Glycogen storage disease v0.2 PHKA2 Ivone Leong gene: PHKA2 was added
gene: PHKA2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA2 were set to 21634085
Phenotypes for gene: PHKA2 were set to Glycogen storage disease, type IXa2 306000; Glycogen storage disease, type IXa1 306000
Glycogen storage disease v0.2 PHKA1 Ivone Leong gene: PHKA1 was added
gene: PHKA1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA1 were set to 21634085
Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559
Glycogen storage disease v0.2 PGM1 Ivone Leong gene: PGM1 was added
gene: PGM1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921
Glycogen storage disease v0.2 PGK1 Ivone Leong gene: PGK1 was added
gene: PGK1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653
Glycogen storage disease v0.2 PGAM2 Ivone Leong gene: PGAM2 was added
gene: PGAM2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670
Glycogen storage disease v0.2 PFKM Ivone Leong gene: PFKM was added
gene: PFKM was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800
Glycogen storage disease v0.2 NHLRC1 Ivone Leong gene: NHLRC1 was added
gene: NHLRC1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Glycogen storage disease v0.2 LDHA Ivone Leong gene: LDHA was added
gene: LDHA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI 612933
Glycogen storage disease v0.2 LAMP2 Ivone Leong gene: LAMP2 was added
gene: LAMP2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease 300257
Glycogen storage disease v0.2 GYS2 Ivone Leong gene: GYS2 was added
gene: GYS2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver 240600
Glycogen storage disease v0.2 GYS1 Ivone Leong gene: GYS1 was added
gene: GYS1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556
Glycogen storage disease v0.2 GYG1 Ivone Leong gene: GYG1 was added
gene: GYG1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to Glycogen storage disease XV 613507
Glycogen storage disease v0.2 GBE1 Ivone Leong gene: GBE1 was added
gene: GBE1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 23285490
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500
Glycogen storage disease v0.2 GAA Ivone Leong gene: GAA was added
gene: GAA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 20301438
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Glycogen storage disease v0.2 G6PC Ivone Leong gene: G6PC was added
gene: G6PC was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: G6PC were set to 20301489
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia 232200
Glycogen storage disease v0.2 FBP1 Ivone Leong gene: FBP1 was added
gene: FBP1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency 229700
Glycogen storage disease v0.2 EPM2A Ivone Leong gene: EPM2A was added
gene: EPM2A was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Glycogen storage disease v0.2 ENO3 Ivone Leong gene: ENO3 was added
gene: ENO3 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENO3 were set to Glycogen storage disease XIII 612932
Glycogen storage disease v0.2 ALDOA Ivone Leong gene: ALDOA was added
gene: ALDOA was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881
Glycogen storage disease v0.2 AGL Ivone Leong gene: AGL was added
gene: AGL was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 20301788
Phenotypes for gene: AGL were set to Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIa, 232400
Iron metabolism disorders - NOT common HFE mutations v0.20 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-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 TFR2 Louise Daugherty commented on gene: TFR2: 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: TFR2; 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: 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 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 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 SLC40A1 Louise Daugherty commented on gene: SLC40A1: 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: SLC40A1; 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: 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 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; AHMIO1 DMT1-related anemia; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 SEC23B Louise Daugherty reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.20 HFE2 Louise Daugherty commented on gene: HFE2: 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: HJV; 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: 602390 HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 HFE Louise Daugherty commented on gene: HFE: 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: HFE; 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: 235200 HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 HEPH Louise Daugherty commented on gene: HEPH: 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: HEPH; 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: N/A; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 HAMP Louise Daugherty commented on gene: HAMP: 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: HAMP; 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: 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 GBA Louise Daugherty commented on gene: GBA: 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: GBA; 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: 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 v0.20 FTL Louise Daugherty commented on gene: FTL: 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: FTL; 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: 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 v0.20 FTH1 Louise Daugherty commented on gene: FTH1: 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: FTH1; 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 FECH Louise Daugherty commented on gene: FECH: 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: FECH; 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: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 CYBRD1 Louise Daugherty commented on gene: CYBRD1: 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: CYBRD1; 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: N/A Primary iron overload; PMID(s): 15338274
Iron metabolism disorders - NOT common HFE mutations v0.20 CP Louise Daugherty commented on gene: CP: 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: CP; 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: 604290 ACERULOPLASMINEMIA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 CDAN1 Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.20 BMP6 Louise Daugherty commented on gene: BMP6: 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: BMP6; 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 Iron overload; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 ATP7B Louise Daugherty commented on gene: ATP7B: 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: ATP7B; 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: 277900 WILSON DISEASE; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 ACVR1 Louise Daugherty commented on gene: ACVR1: 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: ACVR1; 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: N/A IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.19 SEC23B Louise Daugherty Mode of inheritance for gene: SEC23B was changed from to BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.18 SEC23B Louise Daugherty Classified gene: SEC23B as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.18 SEC23B Louise Daugherty Gene: sec23b has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.17 CDAN1 Louise Daugherty Mode of inheritance for gene: CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.16 CDAN1 Louise Daugherty Classified gene: CDAN1 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.16 CDAN1 Louise Daugherty Gene: cdan1 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.15 TMPRSS6 Mandy nesbitt 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 v0.15 TFR2 Mandy nesbitt 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 v0.15 TF Mandy nesbitt 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 v0.15 SLC40A1 Mandy nesbitt 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 v0.15 SLC11A2 Mandy nesbitt 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 v0.15 SERPINC1 Mandy nesbitt reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY, A1ATD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.15 SEC23B Mandy nesbitt reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224100 Dyserythropoietic anemia, congenital, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 HFE2 Mandy nesbitt 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 v0.15 HFE Mandy nesbitt reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200 HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 HEPH Mandy nesbitt 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 v0.15 HAMP Mandy nesbitt 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 v0.15 GBA Mandy nesbitt 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 v0.15 FTL Mandy nesbitt 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 v0.15 FTH1 Mandy nesbitt 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 v0.15 FECH Mandy nesbitt 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 v0.15 CYBRD1 Mandy nesbitt reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15338274; Phenotypes: N/A Primary iron overload; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 CP Mandy nesbitt 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 v0.15 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
Iron metabolism disorders - NOT common HFE mutations v0.15 BMP6 Mandy nesbitt reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.15 ATP7B Mandy nesbitt 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 v0.15 ACVR1 Mandy nesbitt 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 v0.14 TMPRSS6 Louise Daugherty Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Iron metabolism disorders - NOT common HFE mutations v0.14 TFR2 Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
Iron metabolism disorders - NOT common HFE mutations v0.14 TF Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
Iron metabolism disorders - NOT common HFE mutations v0.14 SLC40A1 Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
Iron metabolism disorders - NOT common HFE mutations v0.14 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 v0.14 SERPINC1 Louise Daugherty Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
Iron metabolism disorders - NOT common HFE mutations v0.14 SEC23B Louise Daugherty Added phenotypes 224100 Dyserythropoietic anemia, congenital, type II for gene: SEC23B
Iron metabolism disorders - NOT common HFE mutations v0.14 HFE2 Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
Iron metabolism disorders - NOT common HFE mutations v0.14 HFE Louise Daugherty Added phenotypes 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 for gene: HFE
Iron metabolism disorders - NOT common HFE mutations v0.14 HAMP Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
Iron metabolism disorders - NOT common HFE mutations v0.14 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 v0.14 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 v0.14 FTH1 Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.14 FECH Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Iron metabolism disorders - NOT common HFE mutations v0.14 CYBRD1 Louise Daugherty Added phenotypes N/A Primary iron overload for gene: CYBRD1
Iron metabolism disorders - NOT common HFE mutations v0.14 CP Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Publications for gene CP were changed from 8641692; 8789443; 11756598(potentially evidence for AD inheritance) to 15338274
Iron metabolism disorders - NOT common HFE mutations v0.14 CDAN1 Louise Daugherty Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1
Iron metabolism disorders - NOT common HFE mutations v0.14 BMP6 Louise Daugherty Added phenotypes Iron overload for gene: BMP6
Iron metabolism disorders - NOT common HFE mutations v0.14 ATP7B Louise Daugherty Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
Iron metabolism disorders - NOT common HFE mutations v0.14 ACVR1 Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
Iron metabolism disorders - NOT common HFE mutations v0.13 SEC23B Louise Daugherty Source NHS GMS was added to SEC23B.
Iron metabolism disorders - NOT common HFE mutations v0.13 CDAN1 Louise Daugherty Source NHS GMS was added to CDAN1.
Iron metabolism disorders - NOT common HFE mutations v0.12 TMPRSS6 Louise Daugherty Source Yorkshire and North East GLH was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.12 TFR2 Louise Daugherty Source Yorkshire and North East GLH was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.12 TF Louise Daugherty Source Yorkshire and North East GLH was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.12 SLC40A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.12 SLC11A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.12 SERPINC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.12 SEC23B Louise Daugherty gene: SEC23B was added
gene: SEC23B was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: SEC23B was set to
Iron metabolism disorders - NOT common HFE mutations v0.12 HFE2 Louise Daugherty Source Yorkshire and North East GLH was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.12 HFE Louise Daugherty Source Yorkshire and North East GLH was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.12 HEPH Louise Daugherty Source Yorkshire and North East GLH was added to HEPH.
Iron metabolism disorders - NOT common HFE mutations v0.12 HAMP Louise Daugherty Source Yorkshire and North East GLH was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.12 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Iron metabolism disorders - NOT common HFE mutations v0.12 FTL Louise Daugherty Source Yorkshire and North East GLH was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.12 FTH1 Louise Daugherty Source Yorkshire and North East GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.12 FECH Louise Daugherty Source Yorkshire and North East GLH was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.12 CYBRD1 Louise Daugherty Source Yorkshire and North East GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.12 CP Louise Daugherty Source Yorkshire and North East GLH was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.12 CDAN1 Louise Daugherty gene: CDAN1 was added
gene: CDAN1 was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CDAN1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.12 BMP6 Louise Daugherty Source Yorkshire and North East GLH was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.12 ATP7B Louise Daugherty Source Yorkshire and North East GLH was added to ATP7B.
Iron metabolism disorders - NOT common HFE mutations v0.12 ACVR1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVR1.
Albinism or congenital nystagmus v0.13 SETX Ivone Leong Classified gene: SETX as Green List (high evidence)
Albinism or congenital nystagmus v0.13 SETX Ivone Leong Gene: setx has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.12 SACS Ivone Leong Classified gene: SACS as Green List (high evidence)
Albinism or congenital nystagmus v0.12 SACS Ivone Leong Gene: sacs has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.11 RAB27A Ivone Leong Classified gene: RAB27A as Green List (high evidence)
Albinism or congenital nystagmus v0.11 RAB27A Ivone Leong Gene: rab27a has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.10 PAX6 Ivone Leong Classified gene: PAX6 as Green List (high evidence)
Albinism or congenital nystagmus v0.10 PAX6 Ivone Leong Gene: pax6 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.9 HPS6 Ivone Leong Classified gene: HPS6 as Green List (high evidence)
Albinism or congenital nystagmus v0.9 HPS6 Ivone Leong Gene: hps6 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.8 CASK Ivone Leong Classified gene: CASK as Green List (high evidence)
Albinism or congenital nystagmus v0.8 CASK Ivone Leong Gene: cask has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.7 CACNA1F Ivone Leong Classified gene: CACNA1F as Green List (high evidence)
Albinism or congenital nystagmus v0.7 CACNA1F Ivone Leong Gene: cacna1f has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.6 AP3B1 Ivone Leong Classified gene: AP3B1 as Green List (high evidence)
Albinism or congenital nystagmus v0.6 AP3B1 Ivone Leong Gene: ap3b1 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.5 SETX Ivone Leong reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433 AD, Spinocerebellar ataxia, autosomal recessive 1 606002 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 SACS Ivone Leong reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type 270550 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 RAB27A Ivone Leong reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 2 607624 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Coloboma of optic nerve 120430 AD, ?Coloboma, ocular 120200 AD, ?Morning glory disc anomaly 120430 AD, Aniridia 106210 AD, Anterior segment dysgenesis 5, multiple subtypes 604229, Cataract with late-onset corneal dystrophy 106210 AD, Foveal hypoplasia 1 136520 AD, Keratitis 148190 AD, Optic nerve hypoplasia 165550 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Albinism or congenital nystagmus v0.5 HPS6 Ivone Leong reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 6 614075 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.5 CASK Ivone Leong reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD, Mental retardation, with or without nystagmus 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Albinism or congenital nystagmus v0.5 CACNA1F Ivone Leong reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aland Island eye disease 300600 XL, Cone-rod dystrophy, X-linked, 3 300476 XLR, Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Albinism or congenital nystagmus v0.5 AP3B1 Ivone Leong reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2 608233 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.4 SETX Ivone Leong gene: SETX was added
gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR
Albinism or congenital nystagmus v0.4 SACS Ivone Leong gene: SACS was added
gene: SACS was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR
Albinism or congenital nystagmus v0.4 RAB27A Ivone Leong gene: RAB27A was added
gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR
Albinism or congenital nystagmus v0.4 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Optic nerve hypoplasia 165550 AD; Aniridia 106210 AD; ?Morning glory disc anomaly 120430 AD; Cataract with late-onset corneal dystrophy 106210 AD; Keratitis 148190 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; ?Coloboma of optic nerve 120430 AD; Foveal hypoplasia 1 136520 AD; ?Coloboma, ocular 120200 AD
Albinism or congenital nystagmus v0.4 HPS6 Ivone Leong gene: HPS6 was added
gene: HPS6 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6 614075 AR
Albinism or congenital nystagmus v0.4 CASK Ivone Leong gene: CASK was added
gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422
Albinism or congenital nystagmus v0.4 CACNA1F Ivone Leong gene: CACNA1F was added
gene: CACNA1F was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL
Albinism or congenital nystagmus v0.4 AP3B1 Ivone Leong gene: AP3B1 was added
gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR
Bleeding and platelet disorders v0.23 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 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: 301000 Wiskott-Aldrich syndrome; 300299 Neutropenia, severe congenital, X-linked;313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.23 VWF Louise Daugherty commented on gene: VWF: 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: VWF; 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: 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 v0.23 VPS33B Louise Daugherty commented on gene: VPS33B: 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: VPS33B; 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: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 VKORC1 Louise Daugherty commented on gene: VKORC1: 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: VKORC1; 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: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2;122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.23 VIPAS39 Louise Daugherty commented on gene: VIPAS39: 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: VIPAS39; 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: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 TUBB1 Louise Daugherty commented on gene: TUBB1: 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: TUBB1; 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: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.23 TPM4 Louise Daugherty commented on gene: TPM4: 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: TPM4; 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; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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 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: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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: 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: N/A AD bleeding disorder; PMID(s): 25564403
Bleeding and platelet disorders v0.23 TBXAS1 Louise Daugherty commented on gene: TBXAS1: 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: TBXAS1; 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: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 TBXA2R Louise Daugherty commented on gene: TBXA2R: 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: TBXA2R; 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: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.23 STXBP2 Louise Daugherty commented on gene: STXBP2: 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: STXBP2; 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: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.23 STIM1 Louise Daugherty commented on gene: STIM1: 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: STIM1; 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: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SRC Louise Daugherty commented on gene: SRC: 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: SRC; 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: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SLFN14 Louise Daugherty commented on gene: SLFN14: 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: SLFN14; 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: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SERPINF2 Louise Daugherty commented on gene: SERPINF2: 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: SERPINF2; 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: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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? Yes; 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 v0.23 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 intial 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
Bleeding and platelet disorders v0.23 RASGRP2 Louise Daugherty commented on gene: RASGRP2: 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: RASGRP2; 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: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PTGS1 Louise Daugherty commented on gene: PTGS1: 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: PTGS1; 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: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PRKACG Louise Daugherty commented on gene: PRKACG: 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: PRKACG; 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: 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PLAU Louise Daugherty commented on gene: PLAU: 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: PLAU; 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: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: 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: PLA2G4A; 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: N/A Phospholipase A2, group IV A, deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.23 P2RY12 Louise Daugherty commented on gene: P2RY12: 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: P2RY12; 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: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.23 NBEAL2 Louise Daugherty commented on gene: NBEAL2: 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: NBEAL2; 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: 139090 Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MYH9 Louise Daugherty commented on gene: MYH9: 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: MYH9; 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: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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 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: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MPIG6B Louise Daugherty commented on gene: MPIG6B: 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: MPIG6B; 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: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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 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: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MCFD2 Louise Daugherty commented on gene: MCFD2: 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: MCFD2; 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: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.23 LMAN1 Louise Daugherty commented on gene: LMAN1: 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: LMAN1; 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: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 KNG1 Louise Daugherty commented on gene: KNG1: 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: KNG1; 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: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.23 KLKB1 Louise Daugherty commented on gene: KLKB1: 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: KLKB1; 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: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 KDSR Louise Daugherty commented on gene: KDSR: 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: KDSR; 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: N/A Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ITGB3 Louise Daugherty commented on gene: ITGB3: 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: ITGB3; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ITGA2B Louise Daugherty commented on gene: ITGA2B: 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: ITGA2B; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ITGA2 Louise Daugherty commented on gene: ITGA2: 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: ITGA2; 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: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS6 Louise Daugherty commented on gene: HPS6: 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: HPS6; 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: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS5 Louise Daugherty commented on gene: HPS5: 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: HPS5; 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: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS4 Louise Daugherty commented on gene: HPS4: 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: HPS4; 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: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS3 Louise Daugherty commented on gene: HPS3: 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: HPS3; 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: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS1 Louise Daugherty commented on gene: HPS1: 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: HPS1; 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: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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 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: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP9 Louise Daugherty commented on gene: GP9: 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: GP9; 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: 231200BERNARD-SOULIER SYNDROME;; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP6 Louise Daugherty commented on gene: GP6: 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: GP6; 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: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP1BB Louise Daugherty commented on gene: GP1BB: 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: GP1BB; 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: 231200BERNARD-SOULIER SYNDROME; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP1BA Louise Daugherty commented on gene: GP1BA: 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: GP1BA; 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: 231200BERNARD-SOULIER SYNDROME; 177820 von Willebrand disease, platelet-type; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GNE Louise Daugherty commented on gene: GNE: 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: GNE; 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: N/A Myopathy associated with thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GGCX Louise Daugherty commented on gene: GGCX: 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: GGCX; 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: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GFI1B Louise Daugherty commented on gene: GFI1B: 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: GFI1B; 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: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GBA Louise Daugherty commented on gene: GBA: 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: GBA; 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: 230800 Gaucher disease, type I;230900 Gaucher disease, type II; 231000 Gaucher disease, type III; 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FYB1 Louise Daugherty commented on gene: FYB1: 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: FYB1; 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: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FLNA Louise Daugherty commented on gene: FLNA: 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: FLNA; 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: N/A Macrothrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FLI1 Louise Daugherty commented on gene: FLI1: 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: FLI1; 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: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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
Bleeding and platelet disorders v0.23 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
Bleeding and platelet disorders v0.23 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
Bleeding and platelet disorders v0.23 FERMT3 Louise Daugherty commented on gene: FERMT3: 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: FERMT3; 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: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F9 Louise Daugherty commented on gene: F9: 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: F9; 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: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F8 Louise Daugherty commented on gene: F8: 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: F8; 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: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F7 Louise Daugherty commented on gene: F7: 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: F7; 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: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F2R Louise Daugherty commented on gene: F2R: 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: F2R; 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: N/A Type 1 VWD; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F13B Louise Daugherty commented on gene: F13B: 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: F13B; 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: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F13A1 Louise Daugherty commented on gene: F13A1: 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: F13A1; 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: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F12 Louise Daugherty commented on gene: F12: 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: F12; 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: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F11 Louise Daugherty commented on gene: F11: 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: F11; 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: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F10 Louise Daugherty commented on gene: F10: 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: F10; 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: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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: 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: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ENG Louise Daugherty commented on gene: ENG: 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: ENG; 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: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 DTNBP1 Louise Daugherty commented on gene: DTNBP1: 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: DTNBP1; 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: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.23 DIAPH1 Louise Daugherty commented on gene: DIAPH1: 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: DIAPH1; 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: 124900 Macrothrombocytopenia and hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.23 CYCS Louise Daugherty commented on gene: CYCS: 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: CYCS; 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: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.23 CDC42 Louise Daugherty commented on gene: CDC42: 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: CDC42; 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: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: 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: BLOC1S6; 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: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.23 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: 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: BLOC1S3; 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: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ARPC1B Louise Daugherty commented on gene: ARPC1B: 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: ARPC1B; 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: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.23 AP3D1 Louise Daugherty commented on gene: AP3D1: 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: AP3D1; 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: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.23 AP3B1 Louise Daugherty commented on gene: AP3B1: 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: AP3B1; 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: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ANO6 Louise Daugherty commented on gene: ANO6: 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: ANO6; 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: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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 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: 188000 Thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ACVRL1 Louise Daugherty commented on gene: ACVRL1: 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: ACVRL1; 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: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ACTN1 Louise Daugherty commented on gene: ACTN1: 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: ACTN1; 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: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.23 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: 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 v0.23 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 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.22 WAS Mandy nesbitt reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.22 VWF Mandy nesbitt reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v0.22 VPS33B Mandy nesbitt reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 VKORC1 Mandy nesbitt reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v0.22 VIPAS39 Mandy nesbitt reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 TUBB1 Mandy nesbitt reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 TPM4 Mandy nesbitt reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 THPO Mandy nesbitt 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 v0.22 THBD Mandy nesbitt reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.22 TBXAS1 Mandy nesbitt 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 v0.22 TBXA2R Mandy nesbitt 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 v0.22 STXBP2 Mandy nesbitt 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 v0.22 STIM1 Mandy nesbitt reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 SRC Mandy nesbitt reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 SLFN14 Mandy nesbitt 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 v0.22 SERPINF2 Mandy nesbitt 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 v0.22 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, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 RUNX1 Mandy nesbitt 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; Current diagnostic: yes
Bleeding and platelet disorders v0.22 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
Bleeding and platelet disorders v0.22 RASGRP2 Mandy nesbitt 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 v0.22 PTGS1 Mandy nesbitt reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 PRKACG Mandy nesbitt reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 PLAU Mandy nesbitt 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 v0.22 PLA2G4A Mandy nesbitt reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 P2RY12 Mandy nesbitt 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 v0.22 NBEAL2 Mandy nesbitt 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 v0.22 MYH9 Mandy nesbitt 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; Current diagnostic: yes
Bleeding and platelet disorders v0.22 MPL Mandy nesbitt 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 v0.22 MPIG6B Mandy nesbitt 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 v0.22 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, imprinted status unknown
Bleeding and platelet disorders v0.22 MCFD2 Mandy nesbitt 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 v0.22 LMAN1 Mandy nesbitt reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 KNG1 Mandy nesbitt 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 v0.22 KLKB1 Mandy nesbitt 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 v0.22 KDSR Mandy nesbitt reviewed gene: KDSR: Rating: AMBER; 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 v0.22 ITGB3 Mandy nesbitt 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; Current diagnostic: yes
Bleeding and platelet disorders v0.22 ITGA2B Mandy nesbitt 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; Current diagnostic: yes
Bleeding and platelet disorders v0.22 ITGA2 Mandy nesbitt reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.22 HPS6 Mandy nesbitt 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 v0.22 HPS5 Mandy nesbitt 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 v0.22 HPS4 Mandy nesbitt 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 v0.22 HPS3 Mandy nesbitt 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 v0.22 HPS1 Mandy nesbitt 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 v0.22 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, imprinted status unknown
Bleeding and platelet disorders v0.22 GP9 Mandy nesbitt reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 GP6 Mandy nesbitt 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 v0.22 GP1BB Mandy nesbitt reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 GP1BA Mandy nesbitt reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME, 177820 von Willebrand disease, platelet-type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 GNE Mandy nesbitt reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 GGCX Mandy nesbitt 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 v0.22 GFI1B Mandy nesbitt 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 v0.22 GBA Mandy nesbitt 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 v0.22 GATA1 Mandy nesbitt 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; Current diagnostic: yes
Bleeding and platelet disorders v0.22 FYB1 Mandy nesbitt reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 FLNA Mandy nesbitt reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.22 FLI1 Mandy nesbitt 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 v0.22 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
Bleeding and platelet disorders v0.22 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
Bleeding and platelet disorders v0.22 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
Bleeding and platelet disorders v0.22 FERMT3 Mandy nesbitt 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 v0.22 F9 Mandy nesbitt 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 v0.22 F8 Mandy nesbitt 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 v0.22 F7 Mandy nesbitt 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 v0.22 F5 Mandy nesbitt reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F2R Mandy nesbitt reviewed gene: F2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 F2 Mandy nesbitt 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 v0.22 F13B Mandy nesbitt 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 v0.22 F13A1 Mandy nesbitt 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 v0.22 F12 Mandy nesbitt 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 F11 Mandy nesbitt 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 v0.22 F10 Mandy nesbitt reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ETV6 Mandy nesbitt reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 ENG Mandy nesbitt 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 v0.22 DTNBP1 Mandy nesbitt 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 v0.22 DIAPH1 Mandy nesbitt reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 CYCS Mandy nesbitt 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 v0.22 CDC42 Mandy nesbitt reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 BLOC1S6 Mandy nesbitt 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 v0.22 BLOC1S3 Mandy nesbitt 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 v0.22 ARPC1B Mandy nesbitt 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 v0.22 AP3D1 Mandy nesbitt 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 v0.22 AP3B1 Mandy nesbitt 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 v0.22 ANO6 Mandy nesbitt reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ANKRD26 Mandy nesbitt 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 v0.22 ADAMTS13 Mandy nesbitt reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 ACVRL1 Mandy nesbitt 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 v0.22 ACTN1 Mandy nesbitt 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 v0.22 ABCG8 Mandy nesbitt reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ABCG5 Mandy nesbitt reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.21 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 v0.21 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 v0.21 VPS33B Louise Daugherty Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Bleeding and platelet disorders v0.21 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 v0.21 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.21 TUBB1 Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Bleeding and platelet disorders v0.21 THPO Louise Daugherty Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Bleeding and platelet disorders v0.21 THBD Louise Daugherty Added phenotypes AD bleeding disorder for gene: THBD
Publications for gene THBD were changed from 25049278; 27479822; 28267383; 29145514 to 25564403
Bleeding and platelet disorders v0.21 TBXAS1 Louise Daugherty Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Bleeding and platelet disorders v0.21 TBXA2R Louise Daugherty Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Bleeding and platelet disorders v0.21 STXBP2 Louise Daugherty Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Bleeding and platelet disorders v0.21 STIM1 Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Bleeding and platelet disorders v0.21 SRC Louise Daugherty Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Bleeding and platelet disorders v0.21 SLFN14 Louise Daugherty Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Bleeding and platelet disorders v0.21 SERPINF2 Louise Daugherty Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Bleeding and platelet disorders v0.21 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Bleeding and platelet disorders v0.21 RUNX1 Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Bleeding and platelet disorders v0.21 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Bleeding and platelet disorders v0.21 RASGRP2 Louise Daugherty Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Bleeding and platelet disorders v0.21 PTGS1 Louise Daugherty Added phenotypes 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Bleeding and platelet disorders v0.21 PRKACG Louise Daugherty Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Bleeding and platelet disorders v0.21 PLAU Louise Daugherty Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Bleeding and platelet disorders v0.21 PLA2G4A Louise Daugherty Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A
Bleeding and platelet disorders v0.21 P2RY12 Louise Daugherty Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
Bleeding and platelet disorders v0.21 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.21 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 v0.21 MPL Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Bleeding and platelet disorders v0.21 MPIG6B Louise Daugherty Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Bleeding and platelet disorders v0.21 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Bleeding and platelet disorders v0.21 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Bleeding and platelet disorders v0.21 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Bleeding and platelet disorders v0.21 KNG1 Louise Daugherty Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1
Bleeding and platelet disorders v0.21 KLKB1 Louise Daugherty Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Bleeding and platelet disorders v0.21 KDSR Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Bleeding and platelet disorders v0.21 ITGB3 Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Bleeding and platelet disorders v0.21 ITGA2B Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Bleeding and platelet disorders v0.21 ITGA2 Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Bleeding and platelet disorders v0.21 HPS6 Louise Daugherty Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Bleeding and platelet disorders v0.21 HPS5 Louise Daugherty Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Bleeding and platelet disorders v0.21 HPS4 Louise Daugherty Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Bleeding and platelet disorders v0.21 HPS3 Louise Daugherty Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Bleeding and platelet disorders v0.21 HPS1 Louise Daugherty Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Bleeding and platelet disorders v0.21 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Bleeding and platelet disorders v0.21 GP9 Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP9
Bleeding and platelet disorders v0.21 GP6 Louise Daugherty Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Bleeding and platelet disorders v0.21 GP1BB Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP1BB
Bleeding and platelet disorders v0.21 GP1BA Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME; 177820 von Willebrand disease, platelet-type for gene: GP1BA
Bleeding and platelet disorders v0.21 GNE Louise Daugherty Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE
Bleeding and platelet disorders v0.21 GGCX Louise Daugherty Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Bleeding and platelet disorders v0.21 GFI1B Louise Daugherty Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Bleeding and platelet disorders v0.21 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 v0.21 GATA1 Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Bleeding and platelet disorders v0.21 FYB1 Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Bleeding and platelet disorders v0.21 FLNA Louise Daugherty Added phenotypes Macrothrombocytopenia for gene: FLNA
Bleeding and platelet disorders v0.21 FLI1 Louise Daugherty Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1
Bleeding and platelet disorders v0.21 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Bleeding and platelet disorders v0.21 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB
Bleeding and platelet disorders v0.21 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 v0.21 FERMT3 Louise Daugherty Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Bleeding and platelet disorders v0.21 F9 Louise Daugherty Added phenotypes 306900 Haemophilia B for gene: F9
Bleeding and platelet disorders v0.21 F8 Louise Daugherty Added phenotypes 306700 Haemophilia A for gene: F8
Bleeding and platelet disorders v0.21 F7 Louise Daugherty Added phenotypes 227500 Factor VII deficiency for gene: F7
Bleeding and platelet disorders v0.21 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency for gene: F5
Bleeding and platelet disorders v0.21 F2R Louise Daugherty Added phenotypes Type 1 VWD for gene: F2R
Bleeding and platelet disorders v0.21 F2 Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
Bleeding and platelet disorders v0.21 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.21 F13A1 Louise Daugherty Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Bleeding and platelet disorders v0.21 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.21 F11 Louise Daugherty Added phenotypes 612416 Factor XI deficiency for gene: F11
Bleeding and platelet disorders v0.21 F10 Louise Daugherty Added phenotypes 227600 Factor X deficiency for gene: F10
Bleeding and platelet disorders v0.21 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Bleeding and platelet disorders v0.21 ENG Louise Daugherty Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Bleeding and platelet disorders v0.21 DTNBP1 Louise Daugherty Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Bleeding and platelet disorders v0.21 DIAPH1 Louise Daugherty Added phenotypes 124900 Macrothrombocytopenia and hearing loss for gene: DIAPH1
Bleeding and platelet disorders v0.21 CYCS Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Bleeding and platelet disorders v0.21 CDC42 Louise Daugherty Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Bleeding and platelet disorders v0.21 BLOC1S6 Louise Daugherty Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Bleeding and platelet disorders v0.21 BLOC1S3 Louise Daugherty Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Bleeding and platelet disorders v0.21 ARPC1B Louise Daugherty Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Bleeding and platelet disorders v0.21 AP3D1 Louise Daugherty Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Bleeding and platelet disorders v0.21 AP3B1 Louise Daugherty Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Bleeding and platelet disorders v0.21 ANO6 Louise Daugherty Added phenotypes 262890 Scott syndrome for gene: ANO6
Bleeding and platelet disorders v0.21 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Bleeding and platelet disorders v0.21 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Bleeding and platelet disorders v0.21 ACVRL1 Louise Daugherty Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Bleeding and platelet disorders v0.21 ACTN1 Louise Daugherty Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Bleeding and platelet disorders v0.21 ABCG8 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Bleeding and platelet disorders v0.21 ABCG5 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Bleeding and platelet disorders v0.19 WAS Louise Daugherty Source Yorkshire and North East GLH was added to WAS.
Bleeding and platelet disorders v0.19 VWF Louise Daugherty Source Yorkshire and North East GLH was added to VWF.
Bleeding and platelet disorders v0.19 VPS33B Louise Daugherty Source Yorkshire and North East GLH was added to VPS33B.
Bleeding and platelet disorders v0.19 VKORC1 Louise Daugherty Source Yorkshire and North East GLH was added to VKORC1.
Bleeding and platelet disorders v0.19 VIPAS39 Louise Daugherty Source Yorkshire and North East GLH was added to VIPAS39.
Bleeding and platelet disorders v0.19 TUBB1 Louise Daugherty Source Yorkshire and North East GLH was added to TUBB1.
Bleeding and platelet disorders v0.19 TPM4 Louise Daugherty Source Yorkshire and North East GLH was added to TPM4.
Bleeding and platelet disorders v0.19 THPO Louise Daugherty Source Yorkshire and North East GLH was added to THPO.
Bleeding and platelet disorders v0.19 THBD Louise Daugherty Source Yorkshire and North East GLH was added to THBD.
Bleeding and platelet disorders v0.19 TBXAS1 Louise Daugherty Source Yorkshire and North East GLH was added to TBXAS1.
Bleeding and platelet disorders v0.19 TBXA2R Louise Daugherty Source Yorkshire and North East GLH was added to TBXA2R.
Bleeding and platelet disorders v0.19 STXBP2 Louise Daugherty Source Yorkshire and North East GLH was added to STXBP2.
Bleeding and platelet disorders v0.19 STIM1 Louise Daugherty Source Yorkshire and North East GLH was added to STIM1.
Bleeding and platelet disorders v0.19 SRC Louise Daugherty Source Yorkshire and North East GLH was added to SRC.
Bleeding and platelet disorders v0.19 SLFN14 Louise Daugherty Source Yorkshire and North East GLH was added to SLFN14.
Bleeding and platelet disorders v0.19 SERPINF2 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINF2.
Bleeding and platelet disorders v0.19 SERPINE1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINE1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.19 RUNX1 Louise Daugherty Source Yorkshire and North East GLH was added to RUNX1.
Bleeding and platelet disorders v0.19 RBM8A Louise Daugherty Source Yorkshire and North East GLH was added to RBM8A.
Bleeding and platelet disorders v0.19 RASGRP2 Louise Daugherty Source Yorkshire and North East GLH was added to RASGRP2.
Bleeding and platelet disorders v0.19 PTGS1 Louise Daugherty Source Yorkshire and North East GLH was added to PTGS1.
Bleeding and platelet disorders v0.19 PRKACG Louise Daugherty Source Yorkshire and North East GLH was added to PRKACG.
Bleeding and platelet disorders v0.19 PLAU Louise Daugherty Source Yorkshire and North East GLH was added to PLAU.
Bleeding and platelet disorders v0.19 PLA2G4A Louise Daugherty Source Yorkshire and North East GLH was added to PLA2G4A.
Bleeding and platelet disorders v0.19 P2RY12 Louise Daugherty Source Yorkshire and North East GLH was added to P2RY12.
Bleeding and platelet disorders v0.19 NBEAL2 Louise Daugherty Source Yorkshire and North East GLH was added to NBEAL2.
Bleeding and platelet disorders v0.19 MYH9 Louise Daugherty Source Yorkshire and North East GLH was added to MYH9.
Bleeding and platelet disorders v0.19 MPL Louise Daugherty Source Yorkshire and North East GLH was added to MPL.
Bleeding and platelet disorders v0.19 MPIG6B Louise Daugherty Source Yorkshire and North East GLH was added to MPIG6B.
Bleeding and platelet disorders v0.19 MECOM Louise Daugherty Source Yorkshire and North East GLH was added to MECOM.
Bleeding and platelet disorders v0.19 MCFD2 Louise Daugherty Source Yorkshire and North East GLH was added to MCFD2.
Bleeding and platelet disorders v0.19 LMAN1 Louise Daugherty Source Yorkshire and North East GLH was added to LMAN1.
Bleeding and platelet disorders v0.19 KNG1 Louise Daugherty Source Yorkshire and North East GLH was added to KNG1.
Bleeding and platelet disorders v0.19 KLKB1 Louise Daugherty Source Yorkshire and North East GLH was added to KLKB1.
Bleeding and platelet disorders v0.19 KDSR Louise Daugherty Source Yorkshire and North East GLH was added to KDSR.
Bleeding and platelet disorders v0.19 ITGB3 Louise Daugherty Source Yorkshire and North East GLH was added to ITGB3.
Bleeding and platelet disorders v0.19 ITGA2B Louise Daugherty Source Yorkshire and North East GLH was added to ITGA2B.
Bleeding and platelet disorders v0.19 ITGA2 Louise Daugherty Source Yorkshire and North East GLH was added to ITGA2.
Bleeding and platelet disorders v0.19 HPS6 Louise Daugherty Source Yorkshire and North East GLH was added to HPS6.
Bleeding and platelet disorders v0.19 HPS5 Louise Daugherty Source Yorkshire and North East GLH was added to HPS5.
Bleeding and platelet disorders v0.19 HPS4 Louise Daugherty Source Yorkshire and North East GLH was added to HPS4.
Bleeding and platelet disorders v0.19 HPS3 Louise Daugherty Source Yorkshire and North East GLH was added to HPS3.
Bleeding and platelet disorders v0.19 HPS1 Louise Daugherty Source Yorkshire and North East GLH was added to HPS1.
Bleeding and platelet disorders v0.19 HOXA11 Louise Daugherty Source Yorkshire and North East GLH was added to HOXA11.
Bleeding and platelet disorders v0.19 GP9 Louise Daugherty Source Yorkshire and North East GLH was added to GP9.
Bleeding and platelet disorders v0.19 GP6 Louise Daugherty Source Yorkshire and North East GLH was added to GP6.
Bleeding and platelet disorders v0.19 GP1BB Louise Daugherty Source Yorkshire and North East GLH was added to GP1BB.
Bleeding and platelet disorders v0.19 GP1BA Louise Daugherty Source Yorkshire and North East GLH was added to GP1BA.
Bleeding and platelet disorders v0.19 GNE Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
Bleeding and platelet disorders v0.19 GGCX Louise Daugherty Source Yorkshire and North East GLH was added to GGCX.
Bleeding and platelet disorders v0.19 GFI1B Louise Daugherty Source Yorkshire and North East GLH was added to GFI1B.
Bleeding and platelet disorders v0.19 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Bleeding and platelet disorders v0.19 GATA1 Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
Bleeding and platelet disorders v0.19 FYB1 Louise Daugherty Source Yorkshire and North East GLH was added to FYB1.
Bleeding and platelet disorders v0.19 FLNA Louise Daugherty Source Yorkshire and North East GLH was added to FLNA.
Bleeding and platelet disorders v0.19 FLI1 Louise Daugherty Source Yorkshire and North East GLH was added to FLI1.
Bleeding and platelet disorders v0.19 FGG Louise Daugherty Source Yorkshire and North East GLH was added to FGG.
Bleeding and platelet disorders v0.19 FGB Louise Daugherty Source Yorkshire and North East GLH was added to FGB.
Bleeding and platelet disorders v0.19 FGA Louise Daugherty Source Yorkshire and North East GLH was added to FGA.
Bleeding and platelet disorders v0.19 FERMT3 Louise Daugherty Source Yorkshire and North East GLH was added to FERMT3.
Bleeding and platelet disorders v0.19 F9 Louise Daugherty Source Yorkshire and North East GLH was added to F9.
Bleeding and platelet disorders v0.19 F8 Louise Daugherty Source Yorkshire and North East GLH was added to F8.
Bleeding and platelet disorders v0.19 F7 Louise Daugherty Source Yorkshire and North East GLH was added to F7.
Bleeding and platelet disorders v0.19 F5 Louise Daugherty Source Yorkshire and North East GLH was added to F5.
Bleeding and platelet disorders v0.19 F2R Louise Daugherty Source Yorkshire and North East GLH was added to F2R.
Bleeding and platelet disorders v0.19 F2 Louise Daugherty Source Yorkshire and North East GLH was added to F2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.19 F13B Louise Daugherty Source Yorkshire and North East GLH was added to F13B.
Bleeding and platelet disorders v0.19 F13A1 Louise Daugherty Source Yorkshire and North East GLH was added to F13A1.
Bleeding and platelet disorders v0.19 F12 Louise Daugherty Source Yorkshire and North East GLH was added to F12.
Bleeding and platelet disorders v0.19 F11 Louise Daugherty Source Yorkshire and North East GLH was added to F11.
Bleeding and platelet disorders v0.19 F10 Louise Daugherty Source Yorkshire and North East GLH was added to F10.
Bleeding and platelet disorders v0.19 ETV6 Louise Daugherty Source Yorkshire and North East GLH was added to ETV6.
Bleeding and platelet disorders v0.19 ENG Louise Daugherty Source Yorkshire and North East GLH was added to ENG.
Bleeding and platelet disorders v0.19 DTNBP1 Louise Daugherty Source Yorkshire and North East GLH was added to DTNBP1.
Bleeding and platelet disorders v0.19 DIAPH1 Louise Daugherty Source Yorkshire and North East GLH was added to DIAPH1.
Bleeding and platelet disorders v0.19 CYCS Louise Daugherty Source Yorkshire and North East GLH was added to CYCS.
Bleeding and platelet disorders v0.19 CDC42 Louise Daugherty Source Yorkshire and North East GLH was added to CDC42.
Bleeding and platelet disorders v0.19 BLOC1S6 Louise Daugherty Source Yorkshire and North East GLH was added to BLOC1S6.
Bleeding and platelet disorders v0.19 BLOC1S3 Louise Daugherty Source Yorkshire and North East GLH was added to BLOC1S3.
Bleeding and platelet disorders v0.19 ARPC1B Louise Daugherty Source Yorkshire and North East GLH was added to ARPC1B.
Bleeding and platelet disorders v0.19 AP3D1 Louise Daugherty Source Yorkshire and North East GLH was added to AP3D1.
Bleeding and platelet disorders v0.19 AP3B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP3B1.
Bleeding and platelet disorders v0.19 ANO6 Louise Daugherty Source Yorkshire and North East GLH was added to ANO6.
Bleeding and platelet disorders v0.19 ANKRD26 Louise Daugherty Source Yorkshire and North East GLH was added to ANKRD26.
Bleeding and platelet disorders v0.19 ADAMTS13 Louise Daugherty Source Yorkshire and North East GLH was added to ADAMTS13.
Bleeding and platelet disorders v0.19 ACVRL1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVRL1.
Bleeding and platelet disorders v0.19 ACTN1 Louise Daugherty Source Yorkshire and North East GLH was added to ACTN1.
Bleeding and platelet disorders v0.19 ABCG8 Louise Daugherty Source Yorkshire and North East GLH was added to ABCG8.
Bleeding and platelet disorders v0.19 ABCG5 Louise Daugherty Source Yorkshire and North East GLH was added to ABCG5.
Intellectual disability v2.632 PHF21A Alistair Pagnamenta reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30487643, 22770980, 27124303, 28127865, 26333423; Phenotypes: intellectual disability, craniofacial anomalies, epilepsy, ASD, overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.40 LZTR1 Anna de Burca gene: LZTR1 was added
gene: LZTR1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 30368668; 30732632
Phenotypes for gene: LZTR1 were set to RASopathy-associated cardiomyopathy
Review for gene: LZTR1 was set to GREEN
Added comment: PMID:30368668 describes the clinical phenotype of 7 unrelated patients with Noonan or Noonan-like syndrome associated with monoallelic or biallelic variants in LZTR1. Five of the patients (one with biallelic variants and four with monoallelic variants) had hypertrophic cardiomyopathy. PMID:30732632 describes the phenotype in 46 unrelated children with RASopathy derived from a cohort of 168 paediatric HCM patients. One of the 46 children with RASopathy had compound heterozygous missense variants in LZTR1, although it is unclear whether this gene was tested in all participants, as it was not included in the exome-based 'expanded cardiomyopathy' panel applied. Given the phenotypic variability of Noonan syndrome, it seems plausible that mild cases could present with apparently isolated hypertrophic cardiomyopathy.
Sources: Literature
Haematuria v1.21 CFHR5 Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria to Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809
Haematuria v1.20 CFHR5 Eleanor Williams Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434
Haematuria v1.19 CFHR5 Eleanor Williams Classified gene: CFHR5 as Amber List (moderate evidence)
Haematuria v1.19 CFHR5 Eleanor Williams Added comment: Comment on list classification: Promoting to Amber after discussion with NHS GMS renal specialist group on 2019-02-04. Newcastle group report that they had 1 family with a variant in this gene.
Haematuria v1.19 CFHR5 Eleanor Williams Gene: cfhr5 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.20 WDR72 Eleanor Williams Phenotypes for gene: WDR72 were changed from distal RTA to distal RTA; hereditary distal renal tubular acidosis
Renal tubulopathies v1.19 WDR72 Eleanor Williams Classified gene: WDR72 as Amber List (moderate evidence)
Renal tubulopathies v1.19 WDR72 Eleanor Williams Added comment: Comment on list classification: Rating this gene as amber as 2 reported families to date.
Renal tubulopathies v1.19 WDR72 Eleanor Williams Gene: wdr72 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.18 WDR72 Eleanor Williams commented on gene: WDR72
Combined factor V and VIII deficiency v0.15 MCFD2 Louise Daugherty commented on gene: MCFD2: 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: MCFD2; 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: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Combined factor V and VIII deficiency v0.15 LMAN1 Louise Daugherty commented on gene: LMAN1: 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: LMAN1; 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: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Combined factor V and VIII deficiency v0.14 MCFD2 Mandy nesbitt 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
Combined factor V and VIII deficiency v0.14 LMAN1 Mandy nesbitt reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism v1.24 KLB Anna de Burca gene: KLB was added
gene: KLB was added to Hypogonadotropic hypogonadism. Sources: Expert list
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLB were set to 28754744
Phenotypes for gene: KLB were set to Congenital hypogonadotropic hypogonadism
Review for gene: KLB was set to AMBER
Added comment: Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert list
Combined factor V and VIII deficiency v0.13 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Combined factor V and VIII deficiency v0.13 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Hypogonadotropic hypogonadism v1.23 SOX3 Anna de Burca gene: SOX3 was added
gene: SOX3 was added to Hypogonadotropic hypogonadism. Sources: Expert list
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked
Review for gene: SOX3 was set to AMBER
Added comment: Suggested by Dr Trevor Cole, Wessex & West Midlands Genomic Laboratory Hub.
Sources: Expert list
Combined factor V and VIII deficiency v0.12 MCFD2 Louise Daugherty Source Yorkshire and North East GLH was added to MCFD2.
Combined factor V and VIII deficiency v0.12 LMAN1 Louise Daugherty Source Yorkshire and North EastGLH was added to LMAN1.
Renal tubulopathies v1.18 EHHADH Eleanor Williams Publications for gene: EHHADH were set to 24401050
Renal tubulopathies v1.17 EHHADH Eleanor Williams commented on gene: EHHADH: PMID: 24401050 (Klootwijk et al 2014) - five-generation black family with isolated autosomal dominant Fanconi's syndrome. They found a heterozygous missense (p.E3K) mutation in EHHADH segregated with the disease. It results in a new mitochondrial targeting motif in the N-terminal portion of EHHADH. Functional studies of proximal tubular cells revealed impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids and a glucose analogue across the epithelium.
Renal tubulopathies v1.17 EHHADH Eleanor Williams Publications for gene: EHHADH were set to
Tubulointerstitial kidney disease v0.8 ZNF423 Eleanor Williams Classified gene: ZNF423 as Amber List (moderate evidence)
Tubulointerstitial kidney disease v0.8 ZNF423 Eleanor Williams Added comment: Comment on list classification: Changing rating to Amber after discussion of 3 cases in NHS GMS renal specialist group call on 2019-02-04 - one case NPHP, one Joubert with PKD, one PKD/NPHP.
Tubulointerstitial kidney disease v0.8 ZNF423 Eleanor Williams Gene: znf423 has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v0.7 REN Eleanor Williams Added comment: Comment on mode of inheritance: Updated MOI to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" after discussion in meeting with NHS GMS renal specialist group
Tubulointerstitial kidney disease v0.7 REN Eleanor Williams Mode of inheritance for gene: REN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.6 MUC1 Eleanor Williams Classified gene: MUC1 as Amber List (moderate evidence)
Tubulointerstitial kidney disease v0.6 MUC1 Eleanor Williams Added comment: Comment on list classification: Changing the rating from Green to Amber as only 1 mutation has been found outside of the VNTR region. SNVs within the VNTR are unlikely to be detected by WGS.
Tubulointerstitial kidney disease v0.6 MUC1 Eleanor Williams Gene: muc1 has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v0.5 MUC1 Eleanor Williams Publications for gene: MUC1 were set to 23396133
Tubulointerstitial kidney disease v0.4 MUC1 Eleanor Williams commented on gene: MUC1: PMID: 29156055 (Yamamoto et al 2017) report a 2-bp deletion in MUC1 in a family with autosomal dominant tubulointerstitial kidney disease. It was found by exome sequencing and is located before the VNTR. The resulting mutant MUC1 protein had a very similar amino acid sequence and predicted 3D structure to the previously reported mutant protein
Tubulointerstitial kidney disease v0.4 MUC1 Eleanor Williams commented on gene: MUC1: PMID: 29967284 (Živná et al 2018) - developed immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations. Found six families with five novel MUC1 frameshift mutations within the VNTR units that all predict production of the identical MUC1fs protein that is found in patients with the 27dupC duplication.

All 191 affected families reported to date produce the same frameshifted protein.
Early onset or syndromic epilepsy v1.13 GATM Deb Pal reviewed gene: GATM: Rating: RED; Mode of pathogenicity: None; Publications: 26490222; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.13 GABRD Deb Pal reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: ; Mode of inheritance: None
Tubulointerstitial kidney disease v0.4 MUC1 Eleanor Williams commented on gene: MUC1: PMID: 23396133 (Kirby et al 2013) describe 6 families with an insertion of a single C in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (~1.5-5 kb), GC-rich (>80%), coding VNTR in the mucin 1 gene. The insertion results in a frameshift which is predicted to produce a mutant protein that contains many copies of a novel repeat sequence but which lacks, owing to a novel stop codon shortly beyond the VNTR terminus, the downstream SEA self-cleavage module and both transmembrane and intracellular domains characteristic of the normal MUC1 precursor protein.
Fetal anomalies v0.110 ANO5 Rebecca Foulger commented on gene: ANO5: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L in DD-G2P.
Fetal anomalies v0.110 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
Fetal anomalies v0.110 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 is also rated 'confirmed' for MYHRE SYNDROME.
Fetal anomalies v0.110 KCNE1 Rebecca Foulger commented on gene: KCNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2. Note that in DD-G2P, KCNE1 also has a Disease confidence of 'child IF' for LONG QT SYNDROME-5.
Fetal anomalies v0.110 TIMM8A Rebecca Foulger commented on gene: TIMM8A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
Fetal anomalies v0.110 THAP1 Rebecca Foulger commented on gene: THAP1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION.
Fetal anomalies v0.110 TGFB2 Rebecca Foulger commented on gene: TGFB2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
Fetal anomalies v0.110 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.
Fetal anomalies v0.110 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
Fetal anomalies v0.110 SNORD118 Rebecca Foulger commented on gene: SNORD118: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
Fetal anomalies v0.110 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
Fetal anomalies v0.110 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4.
Fetal anomalies v0.110 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR.
Fetal anomalies v0.110 RRM2B Rebecca Foulger commented on gene: RRM2B: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Mitochondrial depletion syndrome.
Fetal anomalies v0.110 RET Rebecca Foulger commented on gene: RET: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
Fetal anomalies v0.110 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM.
Fetal anomalies v0.110 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1.
Fetal anomalies v0.110 PDCD10 Rebecca Foulger commented on gene: PDCD10: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3.
Fetal anomalies v0.110 NR5A1 Rebecca Foulger commented on gene: NR5A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
Fetal anomalies v0.110 MYO7A Rebecca Foulger commented on gene: MYO7A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B.
Fetal anomalies v0.110 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE.
Fetal anomalies v0.110 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
Fetal anomalies v0.110 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE.
Fetal anomalies v0.110 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4.
Fetal anomalies v0.110 KRIT1 Rebecca Foulger commented on gene: KRIT1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
Fetal anomalies v0.110 KIT Rebecca Foulger commented on gene: KIT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HUMAN PIEBALDISM.
Fetal anomalies v0.110 KARS Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
Fetal anomalies v0.110 HSPD1 Rebecca Foulger commented on gene: HSPD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
Fetal anomalies v0.110 GBA Rebecca Foulger commented on gene: GBA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
Fetal anomalies v0.110 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RETINITIS PIGMENTOSA 28.
Fetal anomalies v0.110 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
Fetal anomalies v0.110 COL4A2 Rebecca Foulger commented on gene: COL4A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 2.
Fetal anomalies v0.110 COL4A1 Rebecca Foulger commented on gene: COL4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 1.
Fetal anomalies v0.110 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
Fetal anomalies v0.110 CISD2 Rebecca Foulger commented on gene: CISD2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for WOLFRAM SYNDROME TYPE 2.
Fetal anomalies v0.110 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome.
Fetal anomalies v0.110 BRCA2 Rebecca Foulger commented on gene: BRCA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
Fetal anomalies v0.110 BRCA1 Rebecca Foulger commented on gene: BRCA1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY.
Fetal anomalies v0.110 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.110 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9.
Fetal anomalies v0.110 AR Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME.
Fetal anomalies v0.110 AMER1 Rebecca Foulger commented on gene: AMER1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
Fetal anomalies v0.110 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
Fetal anomalies v0.110 ALAD Rebecca Foulger commented on gene: ALAD: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ACUTE HEPATIC PORPHYRIA.
Fetal anomalies v0.110 AIRE Rebecca Foulger commented on gene: AIRE: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.
Fetal anomalies v0.110 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
Fetal anomalies v0.110 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Fetal anomalies v0.110 ACADS Rebecca Foulger commented on gene: ACADS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY.
Fetal anomalies v0.110 ABCD1 Rebecca Foulger commented on gene: ABCD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED.
Early onset or syndromic epilepsy v1.13 CUX2 Deb Pal reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29630738; Phenotypes: infantile onset myoclonic DEE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.109 ANO5 Rebecca Foulger Source Expert Review Amber was added to ANO5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 FMR1 Rebecca Foulger Source Expert Review Amber was added to FMR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SMAD4 Rebecca Foulger Source Expert Review Amber was added to SMAD4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 KCNE1 Rebecca Foulger Source Expert Review Amber was added to KCNE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 TIMM8A Rebecca Foulger Source Expert Review Amber was added to TIMM8A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 THAP1 Rebecca Foulger Source Expert Review Amber was added to THAP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 TGFB2 Rebecca Foulger Source Expert Review Amber was added to TGFB2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SYNE1 Rebecca Foulger Source Expert Review Amber was added to SYNE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SPTLC2 Rebecca Foulger Source Expert Review Amber was added to SPTLC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SNORD118 Rebecca Foulger Source Expert Review Amber was added to SNORD118.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SMCHD1 Rebecca Foulger Source Expert Review Amber was added to SMCHD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SLC4A11 Rebecca Foulger Source Expert Review Amber was added to SLC4A11.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 SLC4A1 Rebecca Foulger Source Expert Review Amber was added to SLC4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 RRM2B Rebecca Foulger Source Expert Review Amber was added to RRM2B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 RET Rebecca Foulger Source Expert Review Amber was added to RET.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 POLD1 Rebecca Foulger Source Expert Review Amber was added to POLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 PLA2G6 Rebecca Foulger Source Expert Review Amber was added to PLA2G6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 PDCD10 Rebecca Foulger Source Expert Review Amber was added to PDCD10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 NR5A1 Rebecca Foulger Source Expert Review Amber was added to NR5A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 MYO7A Rebecca Foulger Source Expert Review Amber was added to MYO7A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 MYH8 Rebecca Foulger Source Expert Review Amber was added to MYH8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 MYH6 Rebecca Foulger Source Expert Review Amber was added to MYH6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 LMNA Rebecca Foulger Source Expert Review Amber was added to LMNA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 LDB3 Rebecca Foulger Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 KRIT1 Rebecca Foulger Source Expert Review Amber was added to KRIT1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 KIT Rebecca Foulger Source Expert Review Amber was added to KIT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 KARS Rebecca Foulger Source Expert Review Amber was added to KARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 HSPD1 Rebecca Foulger Source Expert Review Amber was added to HSPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 GBA Rebecca Foulger Source Expert Review Amber was added to GBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 FAM161A Rebecca Foulger Source Expert Review Amber was added to FAM161A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 DARS2 Rebecca Foulger Source Expert Review Amber was added to DARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 COL4A2 Rebecca Foulger Source Expert Review Amber was added to COL4A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 COL4A1 Rebecca Foulger Source Expert Review Amber was added to COL4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 CLN6 Rebecca Foulger Source Expert Review Amber was added to CLN6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 CISD2 Rebecca Foulger Source Expert Review Amber was added to CISD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 CDH1 Rebecca Foulger Source Expert Review Amber was added to CDH1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 BRCA2 Rebecca Foulger Source Expert Review Amber was added to BRCA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 BRCA1 Rebecca Foulger Source Expert Review Amber was added to BRCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ATP1A3 Rebecca Foulger Source Expert Review Amber was added to ATP1A3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ATP13A2 Rebecca Foulger Source Expert Review Amber was added to ATP13A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 AR Rebecca Foulger Source Expert Review Amber was added to AR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 AMER1 Rebecca Foulger Source Expert Review Amber was added to AMER1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ALDOB Rebecca Foulger Source Expert Review Amber was added to ALDOB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ALAD Rebecca Foulger Source Expert Review Amber was added to ALAD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 AIRE Rebecca Foulger Source Expert Review Amber was added to AIRE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 AGXT Rebecca Foulger Source Expert Review Amber was added to AGXT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ACTA2 Rebecca Foulger Source Expert Review Amber was added to ACTA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ACADS Rebecca Foulger Source Expert Review Amber was added to ACADS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.109 ABCD1 Rebecca Foulger Source Expert Review Amber was added to ABCD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.13 CACNB4 Deb Pal reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: None; Publications: 20561025, 20378313, 10762541; Phenotypes: ; Mode of inheritance: None
Tubulointerstitial kidney disease v0.4 GATM Eleanor Williams Publications for gene: GATM were set to
Tubulointerstitial kidney disease v0.3 GATM Eleanor Williams edited their review of gene: GATM: Added comment: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant
kidney disease characterized by renal tubular Fanconi syndrome early in life
followed by progression to renal glomerular failure in mid-adulthood. All patients show
monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino
acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully
penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.; Changed publications: 29654216
Early onset or syndromic epilepsy v1.13 CACNA1A Deb Pal reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11564488, 20071244, 15452324; Phenotypes: Absence epilepsy, Familial hemiplegic migraine 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v1.13 ATP1A2 Deb Pal edited their review of gene: ATP1A2: Changed publications: 18028407, 9579893, 12953268
Early onset or syndromic epilepsy v1.13 ATP1A2 Deb Pal reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18028407; Phenotypes: Familial hemiplegic migraine, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.632 Louise Daugherty removed gene:ZNF970P from the panel
Intellectual disability v2.631 Louise Daugherty removed gene:ZNF8 from the panel
Intellectual disability v2.630 Louise Daugherty removed gene:ZNF965P from the panel
Intellectual disability v2.629 ZNF965P Louise Daugherty gene: ZNF965P was added
gene: ZNF965P was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: ZNF965P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF965P were set to test 4
Added comment: test 4
Sources: Other
Intellectual disability v2.628 ZNF970P Louise Daugherty gene: ZNF970P was added
gene: ZNF970P was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: ZNF970P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF970P were set to test 3
Added comment: test
Sources: Other
Intellectual disability v2.628 ZNF970P Louise Daugherty gene: ZNF970P was added
gene: ZNF970P was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: ZNF970P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF970P were set to test 3
Added comment: test
Sources: Other
Intellectual disability v2.627 ZNF8 Louise Daugherty gene: ZNF8 was added
gene: ZNF8 was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: ZNF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZNF8 were set to test 2
Added comment: test
Sources: Other
Atypical haemolytic uraemic syndrome v1.7 THBD Eleanor Williams commented on gene: THBD: THBD was discussed on the NHS GMS renal specialist group call on 2019-02-04. It was decided that this gene should remain red on the panel.
Atypical haemolytic uraemic syndrome v1.7 THBD Eleanor Williams reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 INF2 Eleanor Williams reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 MMACHC Eleanor Williams reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 VTN Eleanor Williams reviewed gene: VTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 DGKE Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 CFHR1 Eleanor Williams reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 CFB Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 C3 Eleanor Williams reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 CD46 Eleanor Williams reviewed gene: CD46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 CFI Eleanor Williams reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.7 CFH Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Atypical haemolytic uraemic syndrome v1.6 THBD Eleanor Williams Source NHS GMS was added to THBD.
Atypical haemolytic uraemic syndrome v1.6 INF2 Eleanor Williams gene: INF2 was added
gene: INF2 was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS
Mode of inheritance for gene: INF2 was set to
Atypical haemolytic uraemic syndrome v1.6 MMACHC Eleanor Williams gene: MMACHC was added
gene: MMACHC was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS
Mode of inheritance for gene: MMACHC was set to
Atypical haemolytic uraemic syndrome v1.6 VTN Eleanor Williams gene: VTN was added
gene: VTN was added to Atypical haemolytic uraemic syndrome. Sources: NHS GMS
Mode of inheritance for gene: VTN was set to
Atypical haemolytic uraemic syndrome v1.6 DGKE Eleanor Williams Source NHS GMS was added to DGKE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 CFHR1 Eleanor Williams Source NHS GMS was added to CFHR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 CFB Eleanor Williams Source NHS GMS was added to CFB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 C3 Eleanor Williams Source NHS GMS was added to C3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 CD46 Eleanor Williams Source NHS GMS was added to CD46.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 CFI Eleanor Williams Source NHS GMS was added to CFI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.6 CFH Eleanor Williams Source NHS GMS was added to CFH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 DGKE Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFB Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 C3 Eleanor Williams reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFI Eleanor Williams reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFH Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.4 DGKE Eleanor Williams Source NHS GMS was added to DGKE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.4 CFB Eleanor Williams Source NHS GMS was added to CFB.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.4 C3 Eleanor Williams Source NHS GMS was added to C3.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.4 CFI Eleanor Williams Source NHS GMS was added to CFI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.4 CFH Eleanor Williams Source NHS GMS was added to CFH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Monogenic hearing loss v1.56 DMXL2 Anna de Burca reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30237576; Phenotypes: Polyendocrine-polyneuropathy syndrome, Deafness, autosomal dominant 71; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.56 HTRA2 Anna de Burca reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: Infantile neurodegeneration and 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.56 RIPOR2 Anna de Burca reviewed gene: RIPOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24958875, 27269051, 30280293; Phenotypes: Sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.108 EMG1 Rebecca Foulger Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome; Bowen-Conradi syndrome 211180 to Bowen-Conradi syndrome; Bowen-Conradi syndrome, 211180
Fetal anomalies v0.107 TWIST2 Rebecca Foulger Mode of inheritance for gene: TWIST2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.106 TWIST2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'both monoallelic and biallelic' to 'monoallelic'. Inheritance is recessive for Focal facial dermal dysplasia 3, Setleis type (MIM:227260) which Deirdre Cilliers notes would not present pre-natally. Inheritance is autosomal dominant for Ablepharon-macrostomia syndrome (MIM:200110) and Barber-Say syndrome (MIM:209885).
Fetal anomalies v0.106 TWIST2 Rebecca Foulger Mode of inheritance for gene: TWIST2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.105 TWIST2 Rebecca Foulger Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME to ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
Fetal anomalies v0.104 TWIST2 Rebecca Foulger Publications for gene: TWIST2 were set to
Fetal anomalies v0.103 TWIST2 Rebecca Foulger Classified gene: TWIST2 as Green List (high evidence)
Fetal anomalies v0.103 TWIST2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Deirdre Cilliers (OUH). Originally rated Amber based on multiple ratings for different disorders, but as Deirdre notes: Setleis would not present prenatally. Sufficient cases (>3) of Barber-Say and ablepharon-macrostomia syndrome to support causation.
Fetal anomalies v0.103 TWIST2 Rebecca Foulger Gene: twist2 has been classified as Green List (High Evidence).
Fetal anomalies v0.102 TWIST2 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to 'Other' based on comment by Deirdre Cilliers: gain of function for Barber-Say and ablepharon-macrostomia syndrome, which are relevant to this fetal panel. As noted in original upload, DD-G2P record a 'loss of function' mechanism for SETLEIS SYNDROME, but this wouldn't present prenatally (see comment from Deirdre Cilliers).
Fetal anomalies v0.102 TWIST2 Rebecca Foulger Mode of pathogenicity for gene: TWIST2 was changed from to Other
Fetal anomalies v0.101 TWIST2 Rebecca Foulger commented on gene: TWIST2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TWIST2 should be on the Fetal anomalies panel]. Very particular mutations which improve the chance of variant interpretation - gain of function for Barber-Say and ablepharon-macrostomia syndrome. May present with ambiguous genitalia (microarray may identify a male karyotype when thought that female genitalia were seen on scan) or talipes which may be identified, but other features not clear on scan (loss of lateral lower lip). Setleis type of focal facial dermal dysplasia would not present prenatally, although there is a small chance of an incidental finding if this gene is on the panel.
Fetal anomalies v0.101 TBCE Rebecca Foulger Classified gene: TBCE as Amber List (moderate evidence)
Fetal anomalies v0.101 TBCE Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following comment from Deirdre Cilliers that phenotype is not fetally-relevant. Originally rated as Amber based on multiple ratings for multiple disorders in PAGE upload file/DDG2P.
Fetal anomalies v0.101 TBCE Rebecca Foulger Gene: tbce has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.100 TBCE Rebecca Foulger commented on gene: TBCE: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: No [TBCE should not be on the Fetal anomalies panel]. Would not usually present prenatally.
Fetal anomalies v0.100 TBC1D20 Rebecca Foulger Classified gene: TBC1D20 as Green List (high evidence)
Fetal anomalies v0.100 TBC1D20 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Green following comment from Deirdre Cilliers. Originally rated Amber based on multiple ratings in the PAGE upload. Sufficient cases (>3) from PMID:24239381 to support causation of Warburg micro syndrome 4 (MIM:615663), and Deirdre Cilliers confirms that phenotype is fetally-relevant.
Fetal anomalies v0.100 TBC1D20 Rebecca Foulger Gene: tbc1d20 has been classified as Green List (High Evidence).
Fetal anomalies v0.99 TBC1D20 Rebecca Foulger Publications for gene: TBC1D20 were set to
Fetal anomalies v0.98 TBC1D20 Rebecca Foulger commented on gene: TBC1D20: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [TBC1D20 should be on the Fetal anomalies panel]. Many of the features would be seen on ultrasound scan.
Fetal anomalies v0.98 SUFU Rebecca Foulger commented on gene: SUFU: In 4 children from 2 unrelated consanguineous families (Egyptian and Italian) with Joubert syndrome-32 (JBTS32; 617757), De Mori et al. (2017, PMID:28965847) identified 2 different homozygous missense mutations in the SUFU gene.
Fetal anomalies v0.98 SUFU Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'both biallelic and monoallelic' to biallelic based on comment by Deirdre Cilliers: Joubert syndrome 32 (MIM:617757) has biallelic inheritance, and Basal cell nevus syndrome (MIM:109400) has monoallelic inheritance.
Fetal anomalies v0.98 SUFU Rebecca Foulger Mode of inheritance for gene: SUFU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.97 SUFU Rebecca Foulger Publications for gene: SUFU were set to
Fetal anomalies v0.96 SUFU Rebecca Foulger commented on gene: SUFU: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [SUFU should be on the Fetal anomalies panel]. Joubert syndrome would present prenatally with the cerebellar vermis hypoplasia and/or polydactyly. If the test incidentally identifies the predisposition to cancer, screening would be offered early in childhood in any case, although this would be difficult news to hear in the prenatal setting.
Fetal anomalies v0.96 MITF Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'both biallelic and monoallelic' to 'biallelic' as COMMAD phenotype has recessive inheritance, and COMMAD phenotype would present prenatally (see comment from Deirdre Cilliers).
Fetal anomalies v0.96 MITF Rebecca Foulger Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.95 MITF Rebecca Foulger commented on gene: MITF: In 2 unrelated children with coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD; 617306), whose parents exihibited features of WS2A, George et al. (2016, PMID:27889061) identified compound heterozygosity for variants in the MITF gene.
Fetal anomalies v0.95 MITF Rebecca Foulger Publications for gene: MITF were set to
Fetal anomalies v0.94 MITF Rebecca Foulger Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306 to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470
Fetal anomalies v0.93 MITF Rebecca Foulger Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306
Fetal anomalies v0.92 MITF Rebecca Foulger commented on gene: MITF: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [CFC1 should be on the Fetal anomalies panel]. COMMAD would present prenatally as microphalmia and congenital cataracts would be seen on ultrasound scan as may be the macrocephaly and frontal bossing. The parents would likely exhibit the Tietz albinism deafness/Waardenburg phenotypes so would be able to interpret variants for this condition. However, some fetusses may incidentally be identified to have Tietz albinism deafness/Waardenburg phenotypes, but this may also be informative to parents, although more difficult information for them to receive.
Fetal anomalies v0.92 MAGEL2 Rebecca Foulger Classified gene: MAGEL2 as Green List (high evidence)
Fetal anomalies v0.92 MAGEL2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Diedre Cilliers. Originally rated Amber based on multiple ratings for multiple disorders: rated as Confirmed for Schaaf-Yang syndrome in DDG2P, with sufficient (>3) cases to support causation. PMID:26365340 (Mejlachowicz et al 2015) report 3 fetuses with Schaaf-Yang syndrome manifested as arthrogryposis multiplex congenita (AMC) and death in utero, and Diedre Cilliers confirms that phenotype is fetally relevant.
Fetal anomalies v0.92 MAGEL2 Rebecca Foulger Gene: magel2 has been classified as Green List (High Evidence).
Fetal anomalies v0.91 MAGEL2 Rebecca Foulger Publications for gene: MAGEL2 were set to
Fetal anomalies v0.90 MAGEL2 Rebecca Foulger Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547
Fetal anomalies v0.89 MAGEL2 Rebecca Foulger commented on gene: MAGEL2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [MAGEL2 should be on the Fetal anomalies panel]. The phenotype would be clear on scan and the test likely requested because of the scan findings of akinesia. Even if incidentally identified, it will be useful information for the parents, e.g. expectation of learning difficulties, if positive.
Fetal anomalies v0.89 MAFB Rebecca Foulger Classified gene: MAFB as Amber List (moderate evidence)
Fetal anomalies v0.89 MAFB Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on different DDG2P/PAGE ratings for different disorders. Kept rating as Amber following comment from Deidre Cilliers that phenotype is not fetally-relevant.
Fetal anomalies v0.89 MAFB Rebecca Foulger Gene: mafb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.89 MAFB Rebecca Foulger Classified gene: MAFB as Amber List (moderate evidence)
Fetal anomalies v0.89 MAFB Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on different DDG2P/PAGE ratings for different disorders. Kept rating as Amber following comment from Deidre Cilliers that phenotype is not fetally-relevant.
Fetal anomalies v0.89 MAFB Rebecca Foulger Gene: mafb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.89 MAFB Rebecca Foulger Classified gene: MAFB as Amber List (moderate evidence)
Fetal anomalies v0.89 MAFB Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on different DDG2P/PAGE ratings for different disorders. Kept rating as Amber following comment from Deidre Cilliers that phenotype is not fetally-relevant.
Fetal anomalies v0.89 MAFB Rebecca Foulger Gene: mafb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.88 MAFB Rebecca Foulger commented on gene: MAFB: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [Would not include MAFB on the Fetal anomalies panel]: Not usually manifesting in the prenatal setting.
Fetal anomalies v0.88 KMT2C Rebecca Foulger Publications for gene: KMT2C were set to 29276005
Fetal anomalies v0.87 KMT2C Rebecca Foulger Classified gene: KMT2C as Green List (high evidence)
Fetal anomalies v0.87 KMT2C Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Green based on comment from Deidre Cilliers. Sufficient cases (>3 in PMID:22726846 and PMID:29069077) to support causation of Kleefstra syndrome 2, 617768.
Fetal anomalies v0.87 KMT2C Rebecca Foulger Gene: kmt2c has been classified as Green List (High Evidence).
Fetal anomalies v0.86 KMT2C Rebecca Foulger commented on gene: KMT2C: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [KMT2C should be on the Fetal anomalies panel]. Structural brain malformations and digital anomalies will be seen on ultrasound scan, although there are not many patients in the literature, so difficult to know how frequent these findings are.
Fetal anomalies v0.86 EMG1 Rebecca Foulger Mode of pathogenicity for gene: EMG1 was changed from to Other
Fetal anomalies v0.85 EMG1 Rebecca Foulger commented on gene: EMG1: Bowen-Conradi syndrome includes marked prenatal and postnatal growth retardation, microcephaly, a prominent nose with an absent glabellar angle, micrognathia, joint abnormalities including flexion contractures, camptodactyly, rocker-bottom feet, and severe psychomotor delay (PMID:19463982). So far, one EMG1 variant (D86G) recorded for Bowen-Conradi Syndrome, with virtually all affected babies born into Hutterite families. PMID:19463982 does however report that there are at least 4 published (Russian, German, Turkish and two Indian babies) and four unpublished reports of non-Hutterite babies with BCS-compatible features.
Fetal anomalies v0.85 EMG1 Rebecca Foulger Publications for gene: EMG1 were set to
Fetal anomalies v0.85 EMG1 Rebecca Foulger Mode of pathogenicity for gene: EMG1 was changed from to Other
Fetal anomalies v0.84 EMG1 Rebecca Foulger commented on gene: EMG1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [EMG1 should be on the Fetal anomalies panel]. There are structural findings that will be identified on ultrasound scan, namely IUGR, microcephaly, cleft lip and hypospadias (even rocker bottom feet can sometimes be identified on ultrasound scan, although testing would not be offered for this in isolation). These findings are less frequent in the condition, but will be ascertained prenatally. Poor outcome also and this would be useful information for parents to consider in pregnancy – although it is a rare condition.
Fetal anomalies v0.84 DNAH5 Rebecca Foulger Classified gene: DNAH5 as Green List (high evidence)
Fetal anomalies v0.84 DNAH5 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following advice from Fetal expert, Deidre Cilliers that heterotaxy phenotype is prenatally-relevant. Originally rated Amber on the panel based on different PAGE/DDG2P ratings for different disorders.
Fetal anomalies v0.84 DNAH5 Rebecca Foulger Gene: dnah5 has been classified as Green List (High Evidence).
Fetal anomalies v0.83 DNAH5 Rebecca Foulger commented on gene: DNAH5: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [DNAH5 should be on the Fetal anomalies panel]. The prenatal phenotype would be heterotaxy and often seen on ultrasound scan and about half of affected pregnancies with this mutation would have this phenotype.
Fetal anomalies v0.83 DNAH5 Rebecca Foulger Phenotypes for gene: DNAH5 were changed from CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644 to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy
Fetal anomalies v0.82 DEAF1 Rebecca Foulger Classified gene: DEAF1 as Amber List (moderate evidence)
Fetal anomalies v0.82 DEAF1 Rebecca Foulger Added comment: Comment on list classification: Originally rated as Amber based on multiple DDG2P/PAGE ratings for different disorders. Have kept rating as Amber following advice from fetal expert, Deidre Cilliers (see review for details).
Fetal anomalies v0.82 DEAF1 Rebecca Foulger Gene: deaf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.81 DEAF1 Rebecca Foulger commented on gene: DEAF1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Probably not [include DEAF1 on the Fetal anomalies panel] if the panel was requested only for fetal structural anomalies. Difficult to decide as one would like to make this diagnosis prenatally. However, no structural features on ultrasound scan and this would make variant interpretation difficult – especially as some of the mutations have been missense mutations.
Fetal anomalies v0.81 EDAR Rebecca Foulger Classified gene: EDAR as Amber List (moderate evidence)
Fetal anomalies v0.81 EDAR Rebecca Foulger Added comment: Comment on list classification: Changed rating from Green to Amber. Originally rated as Green based on 'Confirmed' DDG2P rating for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive. However, Deidre Cilliers advised that the ectodermal phenotype would not present as structural abnormalities on a scan.
Fetal anomalies v0.81 EDAR Rebecca Foulger Gene: edar has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.80 EDAR Rebecca Foulger commented on gene: EDAR: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [EDAR should not be on the Fetal anomalies panel]. The AD and AR ectodermal dysplasia are not going to present as structural anomalies on scan and it would be difficult if there is a VUS present.
Fetal anomalies v0.80 EDAR Rebecca Foulger Added comment: Comment on phenotypes: Note that Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 is additional phenotype in OMIM.
Fetal anomalies v0.80 EDAR Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
Fetal anomalies v0.79 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
Fetal anomalies v0.79 IFIH1 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Green (with biallelic inheritance) following advice from Anna de Burca and Diedre Cilliers (see reviews for details).
Fetal anomalies v0.79 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
Fetal anomalies v0.78 IFIH1 Rebecca Foulger Mode of pathogenicity for gene: IFIH1 was changed from to Other
Fetal anomalies v0.77 IFIH1 Rebecca Foulger Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME to AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME; Aicardi-Goutieres syndrome 7, 615846; Singleton-Merten syndrome 1, 182250
Fetal anomalies v0.76 IFIH1 Rebecca Foulger Added comment: Comment on publications: PMID:25542954 describes a prenatal diagnosis of Aicardi-Goutières syndrome.
Fetal anomalies v0.76 IFIH1 Rebecca Foulger Publications for gene: IFIH1 were set to
Fetal anomalies v0.75 IFIH1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' after discussion with Genomics England clinical fellows: monoallelic form is associated with cardiovascular features so risk of incidental findings with monoallelic recorded inheritance. Further advice came from Deidre Cilliers Oxford University Hospitals who notes: I would report biallelic inheritance in the known genes with an AR inheritance pattern as there is a high recurrence risk for the family, e.g. AGS caused by TREX1 and there is a clear prenatal phenotype.
Fetal anomalies v0.75 IFIH1 Rebecca Foulger Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.74 IFIH1 Rebecca Foulger commented on gene: IFIH1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [IFIH1 should be on the Fetal anomalies panel]. Aicardi-Goutieres is often missed in the prenatal period as it is assumed that there is congenital infection present (even if testing negative). When reading through the cases in the literature, I think that later ultrasound scans in pregnancy might have identified some of the IFIH1 mutations in addition to the more commonly found TREX1. I have had two families in the past 2 years where I suggested the diagnosis in the prenatal period, although in one family with two affected pregnancies we never found the mutations. However, the phenotype is also clear on ultrasound scan as it looks like infection and the screen for this is negative.
Fetal anomalies v0.74 ARCN1 Rebecca Foulger Publications for gene: ARCN1 were set to
Fetal anomalies v0.73 ARCN1 Rebecca Foulger Phenotypes for gene: ARCN1 were changed from Microcephalic dwarfism to Microcephalic dwarfism; Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Fetal anomalies v0.72 ARCN1 Rebecca Foulger commented on gene: ARCN1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [ARCN1 should be on the Fetal anomalies panel]. All [patients from PMID:27476655] have a degree of developmental delay, although most were mildy affected (useful for parents to have this information). Microcephaly and IUGR will be seen on ultrasound scan as well as structural anomalies, e.g. diaphragmatic hernia, VSD and severe micrognathia (some of these patients may need a paediatrician at birth for airway management as some have required tracheostomies). Cleft palate would likely be missed in most cases on ultrasound scan.
Fetal anomalies v0.72 ARCN1 Rebecca Foulger commented on gene: ARCN1: Additional information to support Green rating: 4 patients from 3 families in Izumi et al., 27476655, 2016 of patients with Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay. All individuals had short stature but just 2 families (subjects 3 and 4 are related) with microcephaly. Genomics England Clinical team (Helen Brittain) notes that IUGR is listed as a feature therefore could present in a fetus, also a smattering of structural malformations e.g. CHD / cleft which might also be detected in utero so probably OK to include.
Fetal anomalies v0.72 TPM2 Rebecca Foulger Publications for gene: TPM2 were set to
Fetal anomalies v0.71 TPM2 Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1; Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680
Fetal anomalies v0.70 TPM2 Rebecca Foulger commented on gene: TPM2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TPM2 should be on the Fetal anomalies panel]. Distal arthrogryposis is seen relatively frequently on ultrasound scan. Often a diagnosis is of help as it gives information about the chance (or not) of learning difficulties when there is a diagnosis of arthrogryposis in the feta’s. The phenotype is also relatively straightforward to identify on ultrasound scan and this would make variant interpretation better.
Fetal anomalies v0.70 KYNU Rebecca Foulger commented on gene: KYNU: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Only 2 cases – amber (although for me it would be a yes for the reasons below). Ultrasound findings, although variable in the condition, may be identified, e.g. short long bones, hypoplastic Lt heart, VU reflux, talipes, dysplastic kidney and absent kidney. Combinations of these features would make interpretation of a variant possible. Also, the reported variants so far were truncating.
Fetal anomalies v0.70 HAAO Rebecca Foulger commented on gene: HAAO: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Only 2 cases – amber (although for me it would be a yes for the reasons below). Ultrasound findings, although variable in the condition, may be identified, e.g. short long bones, hypoplastic Lt heart, VU reflux, talipes, dysplastic kidney and absent kidney. Combinations of these features would make interpretation of a variant possible. Also, the reported variants so far were truncating.
Fetal anomalies v0.70 CHRNA1 Rebecca Foulger Publications for gene: CHRNA1 were set to
Fetal anomalies v0.69 CHRNA1 Rebecca Foulger Phenotypes for gene: CHRNA1 were changed from MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290
Intellectual disability v2.626 LZTR1 Ellen McDonagh Classified gene: LZTR1 as Green List (high evidence)
Intellectual disability v2.626 LZTR1 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the RASopathies gene panel version 1.27. Clinical input from Ellen Thomas (Genomics England Clinical Team) suggested this should also be added to the Intellectual disability panel.
Intellectual disability v2.626 LZTR1 Ellen McDonagh Gene: lztr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.68 CHRNA1 Rebecca Foulger commented on gene: CHRNA1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CHRNA1 should be on the Fetal anomalies panel]. The phenotype would be clear on ultrasound scan and variant interpretation would be easier because of this. In general, arthrogryposis can be variable, but the extent would be relatively obvious on scan and would be the reason for the test request.
Fetal anomalies v0.68 CHRNA1 Rebecca Foulger commented on gene: CHRNA1: Additional information to support Green rating: Rated Green on Arthrogryposis panel, and Green on 'Neuromuscular disorders' and 'Congenital myaesthenic syndrome' panels also. 2 unrelated cases in OMIM of CHRNA1 variants causing LETHAL-type multiple pterygium syndrome from PMID:18252226 (2008). Plus a 2018 paper (PMID:30177536) reporting a homozygous CHRNA1 variant in a child who had reduced fetal movements during pregnancy, polyhydramnios and arthrogryposis multiplex congenita (AMC).
Intellectual disability v2.625 LZTR1 Ellen McDonagh gene: LZTR1 was added
gene: LZTR1 was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10; Prenatal hydrops; increased nuchal translucency; cardiac findings
Intellectual disability v2.624 SOS2 Ellen McDonagh Classified gene: SOS2 as Green List (high evidence)
Intellectual disability v2.624 SOS2 Ellen McDonagh Gene: sos2 has been classified as Green List (High Evidence).
Intellectual disability v2.623 SOS2 Ellen McDonagh Classified gene: SOS2 as Green List (high evidence)
Intellectual disability v2.623 SOS2 Ellen McDonagh Gene: sos2 has been classified as Green List (High Evidence).
Intellectual disability v2.622 SOS2 Ellen McDonagh gene: SOS2 was added
gene: SOS2 was added to Intellectual disability. Sources: Other
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9
Added comment: This gene is Green on the RASopathies gene panel version 1.27. Clinical input from Ellen Thomas (Genomics England Clinical Team) suggested this should also be added to the Intellectual disability panel.
Sources: Other
Fetal anomalies v0.68 CFC1 Rebecca Foulger Publications for gene: CFC1 were set to
Fetal anomalies v0.67 CFC1 Rebecca Foulger Phenotypes for gene: CFC1 were changed from CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS; Heterotaxy, visceral, 2, autosomal, 605376
Fetal anomalies v0.66 CFC1 Rebecca Foulger commented on gene: CFC1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CFC1 should be on the Fetal anomalies panel]. The phenotype would easily be seen on ultrasound scan and such a result would give the parents good information about the pregnancy and also help allow variant interpretation. It would let them know that the intellect is likely normal and they can then concentrate on the particular cardiac problem only. If incidentally identified, ultrasound scans can be offered in pregnancy. Also, one of the patients [in PMID:11062482] had an absent corpus callosum, although it may have been an incidental finding.
Fetal anomalies v0.66 CFC1 Rebecca Foulger commented on gene: CFC1: Further information on evidence for Green rating: Reviewed as Green on the 'Familial non syndromic congenital heart disease' panel in relation to heterotaxy phenotype. 3 cases in OMIM cases to support causation of 'Heterotaxy, visceral, 2, autosomal, 605376' although incomplete penetrance (with phenotypically-normal parent carrying the variant) seen in two cases.
Iron metabolism disorders - NOT common HFE mutations v0.11 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200 Iron-refractory iron deficiency anemia; PMID(s): 18408718; 19357398
Iron metabolism disorders - NOT common HFE mutations v0.11 TFR2 Louise Daugherty commented on gene: TFR2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TFR2; 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: 604250 Hemochromatosis, type 3; PMID(s): 10802645; 11313241
Iron metabolism disorders - NOT common HFE mutations v0.11 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Atransferrinemia; PMID(s): 11110675; 15466165
Iron metabolism disorders - NOT common HFE mutations v0.11 SLC40A1 Louise Daugherty commented on gene: SLC40A1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC40A1; 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: 606069 Hemochromatosis, type 4; PMID(s): 11431687; 16351644
Iron metabolism disorders - NOT common HFE mutations v0.11 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): 15459009; 16160008; 16439678
Iron metabolism disorders - NOT common HFE mutations v0.11 HFE2 Louise Daugherty commented on gene: HFE2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HJV(HFE2); 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: 602390 Hemochromatosis, type 2A; PMID(s): 14982873.
Iron metabolism disorders - NOT common HFE mutations v0.11 HFE Louise Daugherty commented on gene: HFE: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HFE; 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: 235200 Hemochromatosis; PMID(s): 18199861
Iron metabolism disorders - NOT common HFE mutations v0.11 HAMP Louise Daugherty commented on gene: HAMP: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAMP; 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: 613313 Hemochromatosis, type 2B; PMID(s): 12469120; 15198949; 12915468
Iron metabolism disorders - NOT common HFE mutations v0.11 FTL Louise Daugherty commented on gene: FTL: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; 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: 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; PMID(s): 23421845; 19176363; 23940258; 18413574
Iron metabolism disorders - NOT common HFE mutations v0.11 FTH1 Louise Daugherty commented on gene: FTH1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTH1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615517 ?Hemochromatosis, type 5; PMID(s): 11389486
Iron metabolism disorders - NOT common HFE mutations v0.11 CP Louise Daugherty commented on gene: CP: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CP; 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: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; PMID(s): 8641692; 8789443; 11756598(potentially evidence for AD inheritance)
Iron metabolism disorders - NOT common HFE mutations v0.11 BMP6 Louise Daugherty commented on gene: BMP6: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BMP6; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 112266 Mild to moderate iron overload; PMID(s): 26582087
Iron metabolism disorders - NOT common HFE mutations v0.10 TMPRSS6 Frances Smith reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 18408718, 19357398; Phenotypes: 206200 Iron-refractory iron deficiency anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 TFR2 Frances Smith reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802645, 11313241; Phenotypes: 604250 Hemochromatosis, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 TF Frances Smith reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: 11110675, 15466165; Phenotypes: 209300 Atransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 SLC40A1 Frances Smith reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11431687, 16351644; Phenotypes: 606069 Hemochromatosis, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 SLC11A2 Frances Smith reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15459009, 16160008, 16439678; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 HFE2 Frances Smith reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14982873; Phenotypes: 602390 Hemochromatosis, type 2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 HFE Frances Smith reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199861; Phenotypes: 235200 Hemochromatosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 HAMP Frances Smith reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12469120, 15198949, 12915468; Phenotypes: 613313 Hemochromatosis, type 2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 FTL Frances Smith reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23421845, 19176363, 23940258, 18413574; Phenotypes: 600886 Hyperferritinemia-cataract syndrome, 615604 L-ferritin deficiency, dominant and recessive, 606159 Neurodegeneration with brain iron accumulation 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 FTH1 Frances Smith reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: ; Publications: 11389486; Phenotypes: 615517 ?Hemochromatosis, type 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 CP Frances Smith reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: 8641692, 8789443, 11756598(potentially evidence for AD inheritance); Phenotypes: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 BMP6 Frances Smith reviewed gene: BMP6: Rating: RED; Mode of pathogenicity: ; Publications: 26582087; Phenotypes: 112266 Mild to moderate iron overload; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.9 TMPRSS6 Louise Daugherty Added phenotypes 206200 Iron-refractory iron deficiency anemia for gene: TMPRSS6
Publications for gene TMPRSS6 were changed from 25588876; 28476747; 23729726 to 19357398; 18408718
Iron metabolism disorders - NOT common HFE mutations v0.9 TFR2 Louise Daugherty Added phenotypes 604250 Hemochromatosis, type 3 for gene: TFR2
Publications for gene TFR2 were changed from 24055163; 18094142; 26029709 to 10802645; 11313241
Iron metabolism disorders - NOT common HFE mutations v0.9 TF Louise Daugherty Added phenotypes 209300 Atransferrinemia for gene: TF
Publications for gene TF were changed from 23888904; 25486930; 11110675 to 15466165; 11110675
Iron metabolism disorders - NOT common HFE mutations v0.9 SLC40A1 Louise Daugherty Added phenotypes 606069 Hemochromatosis, type 4 for gene: SLC40A1
Publications for gene SLC40A1 were changed from 19846751 to 16351644; 11431687
Iron metabolism disorders - NOT common HFE mutations v0.9 SLC11A2 Louise Daugherty Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2
Publications for gene SLC11A2 were changed from 29178181; 21871825 to 16160008; 16439678; 15459009
Iron metabolism disorders - NOT common HFE mutations v0.9 HFE2 Louise Daugherty Added phenotypes 602390 Hemochromatosis, type 2A for gene: HFE2
Publications for gene HFE2 were changed from 30166352; 14982873; 19342478; 14647275 to 14982873
Iron metabolism disorders - NOT common HFE mutations v0.9 HFE Louise Daugherty Added phenotypes 235200 Hemochromatosis for gene: HFE
Publications for gene HFE were changed from 27518069; 18210110; 24266916 to 18199861
Iron metabolism disorders - NOT common HFE mutations v0.9 HAMP Louise Daugherty Added phenotypes 613313 Hemochromatosis, type 2B for gene: HAMP
Publications for gene HAMP were changed from 22297252; 14630809 to 12469120; 15198949; 12915468
Iron metabolism disorders - NOT common HFE mutations v0.9 FTL Louise Daugherty Added phenotypes 606159 Neurodegeneration with brain iron accumulation 3; 615604 L-ferritin deficiency, dominant and recessive; 600886 Hyperferritinemia-cataract syndrome for gene: FTL
Publications for gene FTL were changed from 20511138; 29797321; 12547246; Neuroferritinopathy GeneReviews 2018; 23421845 to 18413574; 23940258; 23421845; 19176363
Iron metabolism disorders - NOT common HFE mutations v0.9 FTH1 Louise Daugherty Added phenotypes 615517 ?Hemochromatosis, type 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.9 CP Louise Daugherty Added phenotypes 604290 Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP
Publications for gene CP were changed from 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155 to 8641692; 8789443; 11756598(potentially evidence for AD inheritance)
Iron metabolism disorders - NOT common HFE mutations v0.9 BMP6 Louise Daugherty Added phenotypes 112266 Mild to moderate iron overload for gene: BMP6
Publications for gene BMP6 were changed from 28335084; 26582087 to 26582087
Iron metabolism disorders - NOT common HFE mutations v0.7 TMPRSS6 Louise Daugherty Source London South GLH was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.7 TFR2 Louise Daugherty Source London South GLH was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.7 TF Louise Daugherty Source London South GLH was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.7 SLC40A1 Louise Daugherty Source London South GLH was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.7 SLC11A2 Louise Daugherty Source London South GLH was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.7 HFE2 Louise Daugherty Source London South GLH was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.7 HFE Louise Daugherty Source London South GLH was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.7 HAMP Louise Daugherty Source London South GLH was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.7 FTL Louise Daugherty Source London South GLH was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.7 FTH1 Louise Daugherty Source London South GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.7 CP Louise Daugherty Source London South GLH was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.7 BMP6 Louise Daugherty Source London South GLH was added to BMP6.
Rare anaemia v0.12 GIF Louise Daugherty commented on gene: GIF: New approved HGNC gene symbol for GIF is CBLIF
Rare anaemia v0.12 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Rare anaemia v0.12 UMPS Louise Daugherty Source Expert Review Green was added to UMPS.
Mode of inheritance for gene UMPS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 GIF Louise Daugherty Source Expert Review Green was added to GIF.
Mode of inheritance for gene GIF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 FTCD Louise Daugherty Source Expert Review Green was added to FTCD.
Mode of inheritance for gene FTCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 SF3B1 Louise Daugherty Source Expert Review Green was added to SF3B1.
Mode of inheritance for gene SF3B1 was changed from to Unknown
Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 HBE1 Louise Daugherty Source Expert Review Green was added to HBE1.
Mode of inheritance for gene HBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 ATRX Louise Daugherty Source Expert Review Green was added to ATRX.
Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 PGK1 Louise Daugherty Source Expert Review Green was added to PGK1.
Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.12 GPX1 Louise Daugherty Source Expert Review Red was added to GPX1.
Mode of inheritance for gene GPX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1
Rare anaemia v0.12 CYB5A Louise Daugherty Source Expert Review Red was added to CYB5A.
Mode of inheritance for gene CYB5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A
Rare anaemia v0.12 XK Louise Daugherty Source Expert Review Green was added to XK.
Mode of inheritance for gene XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300842 McLeod syndrome for gene: XK
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.11 UMPS Louise Daugherty reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 TCN2 Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 7849710; 10518276
Rare anaemia v0.11 HSPA9 Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 182170 Sideroblastic anaemia 4; PMID(s): 26491070
Rare anaemia v0.11 SLC19A2 Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; PMID(s): 10391221; 10978358
Rare anaemia v0.11 MTRR Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; PMID(s): 12555939; 15714522
Rare anaemia v0.11 MTR Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; PMID(s): 9683607; 12068375
Rare anaemia v0.11 GIF Louise Daugherty reviewed gene: GIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 FTCD Louise Daugherty reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 DHFR Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; PMID(s): 21310276; 21310277
Rare anaemia v0.11 CUBN Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; PMID(s): 15024727; 17285242
Rare anaemia v0.11 AMN Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; PMID(s): 12590260; 17285242
Rare anaemia v0.11 YARS2 Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; PMID(s): 20598274; 23918765; 22504945
Rare anaemia v0.11 SLC25A38 Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 205950 Pyridoxine refractory sideroblastic anaemia 2; PMID(s): 19412178
Rare anaemia v0.11 SLC19A2 Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; PMID(s): 10391221; 10978358
Rare anaemia v0.11 SF3B1 Louise Daugherty reviewed gene: SF3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 PUS1 Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; PMID(s): 15108122; 15772074
Rare anaemia v0.11 GLRX5 Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616860 Pyridoxine refractory sideroblastic anaemia 3; PMID(s): 17485548; 25342667; 20364084
Rare anaemia v0.11 ALAS2 Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300751 Sideroblastic anaemia 1; PMID(s): 10029606
Rare anaemia v0.11 ABCB7 Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic anaemia; PMID(s): 4045952; 11050011; 11843825;
Rare anaemia v0.11 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: Diamond-Blackfan anaemia; PMID(s): 22706301; 30228860; 24766296
Rare anaemia v0.11 RPS29 Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615909 Diamond-Blackfan anemia 13; PMID(s): 24829207
Rare anaemia v0.11 RPS26 Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 20116044; 23812780; 24942156
Rare anaemia v0.11 RPS24 Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 17186470; 23812780
Rare anaemia v0.11 RPS19 Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 9988267
Rare anaemia v0.11 RPS7 Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 19061985; 23718193; 27882484
Rare anaemia v0.11 RPL35A Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612528 Diamond-Blackfan anemia 5; PMID(s): 18535205
Rare anaemia v0.11 RPL27 Louise Daugherty commented on gene: RPL27: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL27; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; PMID(s): 25424902
Rare anaemia v0.11 RPL26 Louise Daugherty commented on gene: RPL26: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL26; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614900 ?Diamond-Blackfan anemia 11; PMID(s): 22431104
Rare anaemia v0.11 RPL15 Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615550 ?Diamond-Blackfan anaemia 12; PMID(s): 23812780
Rare anaemia v0.11 RPL11 Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 19061985; 23718193; 23812780
Rare anaemia v0.11 RPS10 Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 20116044; 20116044
Rare anaemia v0.11 RPL9 Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: ?Diamond-Blackfan anaemia; PMID(s): 29114930
Rare anaemia v0.11 RPL5 Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 19061985
Rare anaemia v0.11 HBG2 Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; PMID(s): 26500940
Rare anaemia v0.11 HBG1 Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; PMID(s): 26500940
Rare anaemia v0.11 HBE1 Louise Daugherty reviewed gene: HBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 HBD Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; PMID(s): 27630894; 25490067
Rare anaemia v0.11 HBB Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: 603903 Sickle cell disease; 613985 Beta thalassaemia; 603902 Dominand inclusion body beta thalassaemia;141749 Delta-beta thalassaemia; PMID(s): 23637309; 20067565
Rare anaemia v0.11 HBA2 Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604131 Alpha thalassaemia; PMID(s): 2050764
Rare anaemia v0.11 HBA1 Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604131 Alpha thalassaemia; PMID(s): 2050764
Rare anaemia v0.11 ATRX Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 SEC23B Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224100 Congenital dyserythropoietic anaemia type 2; PMID(s): 19561605
Rare anaemia v0.11 LPIN2 Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; 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: 609628 Majeed syndrome; PMID(s): 15994876; 17330256
Rare anaemia v0.11 KLF1 Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613673 Congenital dyserythropoietic anaemia type 4; PMID(s): 21055716; 29200155
Rare anaemia v0.11 KIF23 Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 605064 Congenital dyserythropoietic anaemia type 3; PMID(s): 23570799
Rare anaemia v0.11 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): 10700180; 11809723
Rare anaemia v0.11 COX4I2 Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; 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: 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; PMID(s): 19268275
Rare anaemia v0.11 C15orf41 Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615631 Congenital dyserythropoietic anaemia type 1b; PMID(s): 29885034; 29031773; 23716552
Rare anaemia v0.11 CDAN1 Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224120 Congenital dyserythropoietic anaemia type 1a; PMID(s): 12434312; 16098079
Rare anaemia v0.11 TPI1 Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): 11698297; 9338582
Rare anaemia v0.11 PKLR Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266200 Pyruvate kinase deficiency; PMID(s): 7706479; 8664896; 14014643
Rare anaemia v0.11 PGK1 Louise Daugherty reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 PFKM Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 2140573; 7513946
Rare anaemia v0.11 NT5C3A Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; PMID(s): 11369620; 12714505
Rare anaemia v0.11 HK1 Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235700 Hemolytic anemia due to hexokinase deficiency; PMID(s): 12393545; 7655856
Rare anaemia v0.11 GSS Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266130 Glutathione synthetase deficiency; PMID(s): 8896573
Rare anaemia v0.11 GPX1 Louise Daugherty reviewed gene: GPX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 GPI Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; PMID(s): 411100
Rare anaemia v0.11 GCLC Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; PMID(s): 10515893
Rare anaemia v0.11 G6PD Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300908 Hemolytic anemia, G6PD deficient (favism); PMID(s): 18177777
Rare anaemia v0.11 CYB5R3 Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methemoglobinemia; PMID(s): 15921385; 18318771
Rare anaemia v0.11 CYB5A Louise Daugherty reviewed gene: CYB5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 ALDOA Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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 Glycogen storage disease XII; PMID(s): 7331996; 8598869
Rare anaemia v0.11 XK Louise Daugherty reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.11 SPTB Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616649 Spherocytosis, type 2;617948 Elliptocytosis-3; PMID(s): 8226774; 3276733
Rare anaemia v0.11 SPTA1 Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; PMID(s): 4077050; 3940543; 1679439
Rare anaemia v0.11 SLC4A1 Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis;612653 Spherocytosis, type 4; PMID(s): 1722314
Rare anaemia v0.11 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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, NOT imprinted; Phenotypes: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; PMID(s): 21791420; 22492876
Rare anaemia v0.11 RHAG Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 185000 Overhydrated hereditary stomatocytosis;268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): 18931342
Rare anaemia v0.11 PIEZO1 Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 616843 Lymphatic malformation 6; PMID(s): 22529292; 23695678
Rare anaemia v0.11 KCNN4 Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616689 Dehydrated hereditary stomatocytosis 2; PMID(s): 26148990; 26178367
Rare anaemia v0.11 EPB42 Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Spherocytosis, type 5; PMID(s): 1558976; 7772513; 12176912
Rare anaemia v0.11 EPB41 Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 611804 Elliptocytosis-1; PMID(s): 3134067; 1430200; 8423235
Rare anaemia v0.11 ANK1 Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 182900 Spherocytosis, type 1; PMID(s): 7883994; 9590147; 11167760
Rare anaemia v0.11 AK1 Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): 10233365; 9432020; 12649162
Rare anaemia v0.10 UMPS Frances Smith reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 9042911; Phenotypes: 258900 Orotic aciduria with megaloblastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 TCN2 Frances Smith reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7849710, 10518276; Phenotypes: 275350 Transcobalamin II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.10 HSPA9 Frances Smith reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26491070; Phenotypes: 182170 Sideroblastic anaemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.10 SLC19A2 Frances Smith edited their review of gene: SLC19A2: Added comment: Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.10 MTRR Frances Smith reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12555939, 15714522; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 MTR Frances Smith reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9683607, 12068375; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 GIF Frances Smith reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 14576042, 15738392; Phenotypes: 261000 Intrinsic factor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 FTCD Frances Smith reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 12815595; Phenotypes: 229100 Glutamate formiminotransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 DHFR Frances Smith reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 21310276, 21310277; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 CUBN Frances Smith reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15024727, 17285242; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 AMN Frances Smith reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 12590260, 17285242; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 YARS2 Frances Smith reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20598274, 23918765, 22504945; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 SLC25A38 Frances Smith reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: 19412178; Phenotypes: 205950 Pyridoxine refractory sideroblastic anaemia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 SLC19A2 Frances Smith reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391221, 10978358; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 SF3B1 Frances Smith reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28188970, 21995386; Phenotypes: 605590 Refractory anaemia with ring sideroblasts; Mode of inheritance: Unknown; Current diagnostic: yes
Rare anaemia v0.10 PUS1 Frances Smith reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108122, 15772074; Phenotypes: 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 GLRX5 Frances Smith reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 17485548, 25342667, 20364084; Phenotypes: 616860 Pyridoxine refractory sideroblastic anaemia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 ALAS2 Frances Smith reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10029606; Phenotypes: 300751 Sideroblastic anaemia 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.10 ABCB7 Frances Smith reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: 4045952, 11050011, 11843825, ; Phenotypes: 301310 Sideroblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.10 GATA1 Frances Smith edited their review of gene: GATA1: Added comment: Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.; Changed publications: 22706301, 30228860, 24766296; Changed phenotypes: Diamond-Blackfan anaemia
Rare anaemia v0.10 RPS29 Frances Smith reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: 24829207; Phenotypes: 615909 Diamond-Blackfan anemia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPS26 Frances Smith reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: 20116044, 23812780, 24942156; Phenotypes: 613309 Diamond-Blackfan anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPS24 Frances Smith reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186470, 23812780; Phenotypes: 610629 Diamond-blackfan anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPS19 Frances Smith reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: 9988267; Phenotypes: 105650 Diamond-Blackfan anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPS7 Frances Smith reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19061985, 23718193, 27882484; Phenotypes: 612563 Diamond-Blackfan anemia 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL35A Frances Smith reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18535205; Phenotypes: 612528 Diamond-Blackfan anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL27 Frances Smith reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: ; Publications: 25424902; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL26 Frances Smith reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: 614900 ?Diamond-Blackfan anemia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL15 Frances Smith reviewed gene: RPL15: Rating: RED; Mode of pathogenicity: ; Publications: 23812780; Phenotypes: 615550 ?Diamond-Blackfan anaemia 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL11 Frances Smith reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19061985, 23718193, 23812780; Phenotypes: 612562 Diamond-Blackfan anemia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPS10 Frances Smith reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20116044, 20116044; Phenotypes: 613308 Diamond-Blackfan anemia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL9 Frances Smith reviewed gene: RPL9: Rating: RED; Mode of pathogenicity: ; Publications: 29114930; Phenotypes: ?Diamond-Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RPL5 Frances Smith reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19061985; Phenotypes: 612561 Diamond-Blackfan anemia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 HBG2 Frances Smith reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26500940; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 HBG1 Frances Smith reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26500940; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 HBE1 Frances Smith reviewed gene: HBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17712794; Phenotypes: Epsilon-gamma-delta-beta thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 HBD Frances Smith reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27630894, 25490067; Phenotypes: 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 HBB Frances Smith reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23637309, 20067565; Phenotypes: 603903 Sickle cell disease, 613985 Beta thalassaemia, 603902 Dominand inclusion body beta thalassaemia, 141749 Delta-beta thalassaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 HBA2 Frances Smith reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 2050764; Phenotypes: 604131 Alpha thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 HBA1 Frances Smith reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2050764; Phenotypes: 604131 Alpha thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 ATRX Frances Smith reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11449489, 19444090, 17579672; Phenotypes: 301040 Alpha-thalassemia/mental retardation syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.10 SEC23B Frances Smith reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19561605; Phenotypes: 224100 Congenital dyserythropoietic anaemia type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 LPIN2 Frances Smith reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15994876, 17330256 ; Phenotypes: 609628 Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 KLF1 Frances Smith reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21055716, 29200155; Phenotypes: 613673 Congenital dyserythropoietic anaemia type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 KIF23 Frances Smith reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 23570799; Phenotypes: 605064 Congenital dyserythropoietic anaemia type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 GATA1 Frances Smith reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10700180, 11809723; Phenotypes: 300367 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 v0.10 COX4I2 Frances Smith reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 C15orf41 Frances Smith reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: 29885034, 29031773, 23716552; Phenotypes: 615631 Congenital dyserythropoietic anaemia type 1b; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 CDAN1 Frances Smith reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12434312, 16098079; Phenotypes: 224120 Congenital dyserythropoietic anaemia type 1a; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 TPI1 Frances Smith reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11698297, 9338582; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 PKLR Frances Smith reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: 7706479, 8664896, 14014643; Phenotypes: 266200 Pyruvate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 PGK1 Frances Smith reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16740138, 6412025; Phenotypes: 300653 Phosphoglycerate kinase 1 deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.10 PFKM Frances Smith reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: 2140573, 7513946; Phenotypes: 232800 Glycogen storage disease VII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 NT5C3A Frances Smith reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11369620, 12714505; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 HK1 Frances Smith reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12393545, 7655856; Phenotypes: 235700 Hemolytic anemia due to hexokinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 GSS Frances Smith reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896573; Phenotypes: 266130 Glutathione synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 GPX1 Frances Smith reviewed gene: GPX1: Rating: RED; Mode of pathogenicity: ; Publications: 1131421; Phenotypes: 614164 Hemolytic anemia due to glutathione peroxidase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 GPI Frances Smith reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: 411100; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 GCLC Frances Smith reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10515893; Phenotypes: 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 G6PD Frances Smith reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: 18177777; Phenotypes: 300908 Hemolytic anemia, G6PD deficient (favism); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.10 CYB5R3 Frances Smith reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15921385, 18318771; Phenotypes: 250800 Methemoglobinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 CYB5A Frances Smith reviewed gene: CYB5A: Rating: RED; Mode of pathogenicity: ; Publications: 20080843, 8168836; Phenotypes: 250790 Methemoglobinemia and ambiguous genitalia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 ALDOA Frances Smith reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 7331996, 8598869; Phenotypes: 611881 Glycogen storage disease XII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 XK Frances Smith reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: 17683354, 11761473; Phenotypes: 300842 McLeod syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Rare anaemia v0.10 SPTB Frances Smith reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8226774, 3276733; Phenotypes: 616649 Spherocytosis, type 2, 617948 Elliptocytosis-3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 SPTA1 Frances Smith reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 4077050, 3940543, 1679439; Phenotypes: 130600 Elliptocytosis-2, 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 SLC4A1 Frances Smith reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1722314; Phenotypes: 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis, 612653 Spherocytosis, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 SLC2A1 Frances Smith reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21791420, 22492876; Phenotypes: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 RHAG Frances Smith reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: 18931342; Phenotypes: 185000 Overhydrated hereditary stomatocytosis, 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 PIEZO1 Frances Smith reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22529292, 23695678; Phenotypes: 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 616843 Lymphatic malformation 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 KCNN4 Frances Smith reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26148990, 26178367; Phenotypes: 616689 Dehydrated hereditary stomatocytosis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 EPB42 Frances Smith reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: 1558976, 7772513, 12176912; Phenotypes: 612690 Spherocytosis, type 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 EPB41 Frances Smith reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: 3134067, 1430200, 8423235; Phenotypes: 611804 Elliptocytosis-1; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.10 ANK1 Frances Smith reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7883994, 9590147, 11167760; Phenotypes: 182900 Spherocytosis, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.10 AK1 Frances Smith reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233365, 9432020, 12649162; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.9 UMPS Louise Daugherty Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS
Publications for gene UMPS were changed from to 9042911
Rare anaemia v0.9 TCN2 Louise Daugherty Added phenotypes 275350 Transcobalamin II deficiency for gene: TCN2
Publications for gene TCN2 were changed from 7980584; 7849710; 18956254; 24305960; 20352340 to 7849710; 10518276
Rare anaemia v0.9 HSPA9 Louise Daugherty Added phenotypes 182170 Sideroblastic anaemia 4 for gene: HSPA9
Publications for gene HSPA9 were changed from to 26491070
Rare anaemia v0.9 SLC19A2 Louise Daugherty Added phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2
Rare anaemia v0.9 MTRR Louise Daugherty Added phenotypes 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR
Publications for gene MTRR were changed from 12555939; 15714522; 9501215 to 12555939; 15714522
Rare anaemia v0.9 MTR Louise Daugherty Added phenotypes 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR
Publications for gene MTR were changed from to 9683607; 12068375
Rare anaemia v0.9 GIF Louise Daugherty Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF
Publications for gene GIF were changed from to 14576042; 15738392
Rare anaemia v0.9 FTCD Louise Daugherty Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD
Publications for gene FTCD were changed from to 12815595
Rare anaemia v0.9 DHFR Louise Daugherty Added phenotypes 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR
Publications for gene DHFR were changed from 21310277 to 21310276; 21310277
Rare anaemia v0.9 CUBN Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN
Publications for gene CUBN were changed from 15024727 to 17285242; 15024727
Rare anaemia v0.9 AMN Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type for gene: AMN
Publications for gene AMN were changed from 15024727 to 12590260; 17285242
Rare anaemia v0.9 YARS2 Louise Daugherty Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2
Publications for gene YARS2 were changed from 24430573; 24344687; 20598274 to 22504945; 23918765; 20598274
Rare anaemia v0.9 SLC25A38 Louise Daugherty Added phenotypes 205950 Pyridoxine refractory sideroblastic anaemia 2 for gene: SLC25A38
Rare anaemia v0.9 SLC19A2 Louise Daugherty Added phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2
Publications for gene SLC19A2 were changed from 10391221 to 10978358; 10391221
Rare anaemia v0.9 SF3B1 Louise Daugherty Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1
Publications for gene SF3B1 were changed from to 21995386; 28188970
Rare anaemia v0.9 PUS1 Louise Daugherty Added phenotypes 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 for gene: PUS1
Publications for gene PUS1 were changed from 25227147; 17056637; 15108122 to 15772074; 15108122
Rare anaemia v0.9 GLRX5 Louise Daugherty Added phenotypes 616860 Pyridoxine refractory sideroblastic anaemia 3 for gene: GLRX5
Rare anaemia v0.9 ALAS2 Louise Daugherty Added phenotypes 300751 Sideroblastic anaemia 1 for gene: ALAS2
Rare anaemia v0.9 ABCB7 Louise Daugherty Added phenotypes 301310 Sideroblastic anaemia for gene: ABCB7
Publications for gene ABCB7 were changed from 10196363; 11050011; 11843825; 24255920; 20408841; 22398176 to 11843825; 4045952; 11050011
Rare anaemia v0.9 GATA1 Louise Daugherty Added phenotypes Diamond-Blackfan anaemia for gene: GATA1
Publications for gene GATA1 were changed from 10700180; 11809723 to 22706301; 24766296; 30228860
Rare anaemia v0.9 RPS29 Louise Daugherty Added phenotypes 615909 Diamond-Blackfan anemia 13 for gene: RPS29
Publications for gene RPS29 were changed from to 24829207
Rare anaemia v0.9 RPS26 Louise Daugherty Added phenotypes 613309 Diamond-Blackfan anemia 10 for gene: RPS26
Publications for gene RPS26 were changed from 24675553; 25946618; 24942156; 20116044 to 23812780; 24942156; 20116044
Rare anaemia v0.9 RPS24 Louise Daugherty Added phenotypes 610629 Diamond-blackfan anemia 3 for gene: RPS24
Publications for gene RPS24 were changed from 17186470; 19689926; 19773262; 25946618; 8647458; 2210388 to 23812780; 17186470
Rare anaemia v0.9 RPS19 Louise Daugherty Added phenotypes 105650 Diamond-Blackfan anemia 1 for gene: RPS19
Publications for gene RPS19 were changed from 25946618; 24675553; 15384984; 9988267 to 9988267
Rare anaemia v0.9 RPS7 Louise Daugherty Added phenotypes 612563 Diamond-Blackfan anemia 8 for gene: RPS7
Publications for gene RPS7 were changed from 25946618; 23718193; 27882484; 19061985 to 23718193; 27882484; 19061985
Rare anaemia v0.9 RPL35A Louise Daugherty Added phenotypes 612528 Diamond-Blackfan anemia 5 for gene: RPL35A
Publications for gene RPL35A were changed from 25946618; 18535205 to 18535205
Rare anaemia v0.9 RPL27 Louise Daugherty Added phenotypes 617408 ?Diamond-Blackfan anemia 16 for gene: RPL27
Rare anaemia v0.9 RPL26 Louise Daugherty Added phenotypes 614900 ?Diamond-Blackfan anemia 11 for gene: RPL26
Publications for gene RPL26 were changed from to 22431104
Rare anaemia v0.9 RPL15 Louise Daugherty Added phenotypes 615550 ?Diamond-Blackfan anaemia 12 for gene: RPL15
Publications for gene RPL15 were changed from 23812780; 19438500 to 23812780
Rare anaemia v0.9 RPL11 Louise Daugherty Added phenotypes 612562 Diamond-Blackfan anemia 7 for gene: RPL11
Publications for gene RPL11 were changed from 19191325; 19061985 to 23718193; 23812780; 19061985
Rare anaemia v0.9 RPS10 Louise Daugherty Added phenotypes 613308 Diamond-Blackfan anemia 9 for gene: RPS10
Publications for gene RPS10 were changed from 25946618; 20116044; 23718193 to 20116044
Rare anaemia v0.9 RPL9 Louise Daugherty Added phenotypes ?Diamond-Blackfan anaemia for gene: RPL9
Publications for gene RPL9 were changed from 23718193; 20116044 to 29114930
Rare anaemia v0.9 RPL5 Louise Daugherty Added phenotypes 612561 Diamond-Blackfan anemia 6 for gene: RPL5
Publications for gene RPL5 were changed from 25946618; 19191325; 19061985 to 19061985
Rare anaemia v0.9 HBG2 Louise Daugherty Added phenotypes 141749 Hereditary persistance of fetal haemoglobin for gene: HBG2
Publications for gene HBG2 were changed from to 26500940
Rare anaemia v0.9 HBG1 Louise Daugherty Added phenotypes 141749 Hereditary persistance of fetal haemoglobin for gene: HBG1
Publications for gene HBG1 were changed from to 26500940
Rare anaemia v0.9 HBE1 Louise Daugherty Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1
Publications for gene HBE1 were changed from to 17712794
Rare anaemia v0.9 HBD Louise Daugherty Added phenotypes 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore for gene: HBD
Publications for gene HBD were changed from to 27630894; 25490067
Rare anaemia v0.9 HBB Louise Daugherty Added phenotypes 603903 Sickle cell disease; 603902 Dominand inclusion body beta thalassaemia; 141749 Delta-beta thalassaemia; 613985 Beta thalassaemia for gene: HBB
Publications for gene HBB were changed from to 23637309; 20067565
Rare anaemia v0.9 HBA2 Louise Daugherty Added phenotypes 604131 Alpha thalassaemia for gene: HBA2
Publications for gene HBA2 were changed from to 2050764
Rare anaemia v0.9 HBA1 Louise Daugherty Added phenotypes 604131 Alpha thalassaemia for gene: HBA1
Publications for gene HBA1 were changed from to 2050764
Rare anaemia v0.9 ATRX Louise Daugherty Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX
Publications for gene ATRX were changed from to 11449489; 17579672; 19444090
Rare anaemia v0.9 SEC23B Louise Daugherty Added phenotypes 224100 Congenital dyserythropoietic anaemia type 2 for gene: SEC23B
Publications for gene SEC23B were changed from 19561605; 19621418 to 19561605
Rare anaemia v0.9 LPIN2 Louise Daugherty Added phenotypes 609628 Majeed syndrome for gene: LPIN2
Publications for gene LPIN2 were changed from 11795677; 17330256; 2809904; 10969284; 23087183 to 17330256; 15994876
Rare anaemia v0.9 KLF1 Louise Daugherty Added phenotypes 613673 Congenital dyserythropoietic anaemia type 4 for gene: KLF1
Publications for gene KLF1 were changed from 21055716 to 21055716; 29200155
Rare anaemia v0.9 KIF23 Louise Daugherty Added phenotypes 605064 Congenital dyserythropoietic anaemia type 3 for gene: KIF23
Publications for gene KIF23 were changed from 7711721; 7323912; 23570799 to 23570799
Rare anaemia v0.9 GATA1 Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Publications for gene GATA1 were changed from 22706301; 24952648; 24766296; 10700180; 24453067 to 10700180; 11809723
Rare anaemia v0.9 COX4I2 Louise Daugherty Added phenotypes 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
Rare anaemia v0.9 C15orf41 Louise Daugherty Added phenotypes 615631 Congenital dyserythropoietic anaemia type 1b for gene: C15orf41
Publications for gene C15orf41 were changed from 9220189; 16643452; 23716552 to 23716552; 29031773; 29885034
Rare anaemia v0.9 CDAN1 Louise Daugherty Added phenotypes 224120 Congenital dyserythropoietic anaemia type 1a for gene: CDAN1
Publications for gene CDAN1 were changed from 12434312 to 16098079; 12434312
Rare anaemia v0.9 TPI1 Louise Daugherty Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1
Publications for gene TPI1 were changed from 10910933; 17879449; 20374271; 7485100 to 9338582; 11698297
Rare anaemia v0.9 PKLR Louise Daugherty Added phenotypes 266200 Pyruvate kinase deficiency for gene: PKLR
Publications for gene PKLR were changed from 8616073; 1896471; 15982340; 8664896; 18420493; 15953013; 1549130; 8579052 to 7706479; 14014643; 8664896
Rare anaemia v0.9 PGK1 Louise Daugherty Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1
Publications for gene PGK1 were changed from to 6412025; 16740138
Rare anaemia v0.9 PFKM Louise Daugherty Added phenotypes 232800 Glycogen storage disease VII for gene: PFKM
Publications for gene PFKM were changed from 7479776; 7513946; 8889589 to 2140573; 7513946
Rare anaemia v0.9 NT5C3A Louise Daugherty Added phenotypes 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A
Publications for gene NT5C3A were changed from 12714505; 12930399; 11369620 to 12714505; 11369620
Rare anaemia v0.9 HK1 Louise Daugherty Added phenotypes 235700 Hemolytic anemia due to hexokinase deficiency for gene: HK1
Rare anaemia v0.9 GSS Louise Daugherty Added phenotypes 266130 Glutathione synthetase deficiency for gene: GSS
Publications for gene GSS were changed from 16435214; 8896573; 10450861; 11167850 to 8896573
Rare anaemia v0.9 GPX1 Louise Daugherty Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1
Publications for gene GPX1 were changed from to 1131421
Rare anaemia v0.9 GPI Louise Daugherty Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency for gene: GPI
Publications for gene GPI were changed from 4076245; 9856489; 8499925; 8417789 to 411100
Rare anaemia v0.9 GCLC Louise Daugherty Added phenotypes 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC
Publications for gene GCLC were changed from 8634459; 10515893; 12663448; 18024385; 10733484 to 10515893
Rare anaemia v0.9 G6PD Louise Daugherty Added phenotypes 300908 Hemolytic anemia, G6PD deficient (favism) for gene: G6PD
Publications for gene G6PD were changed from 1999409 to 18177777
Rare anaemia v0.9 CYB5R3 Louise Daugherty Added phenotypes 250800 Methemoglobinemia for gene: CYB5R3
Publications for gene CYB5R3 were changed from to 18318771; 15921385
Rare anaemia v0.9 CYB5A Louise Daugherty Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A
Publications for gene CYB5A were changed from to 8168836; 20080843
Rare anaemia v0.9 ALDOA Louise Daugherty Added phenotypes 611881 Glycogen storage disease XII for gene: ALDOA
Publications for gene ALDOA were changed from 8598869; 2825199; 14615364 to 8598869; 7331996
Rare anaemia v0.9 XK Louise Daugherty Added phenotypes 300842 McLeod syndrome for gene: XK
Publications for gene XK were changed from to 17683354; 11761473
Rare anaemia v0.9 SPTB Louise Daugherty Added phenotypes 617948 Elliptocytosis-3; 616649 Spherocytosis, type 2 for gene: SPTB
Publications for gene SPTB were changed from 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 to 3276733; 8226774
Rare anaemia v0.9 SPTA1 Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; 130600 Elliptocytosis-2 for gene: SPTA1
Publications for gene SPTA1 were changed from 2794061; 3597773; 16150946; 8226774; 3785322; 1353056; 2567189; 8941647; 1541680 to 3940543; 4077050; 1679439
Rare anaemia v0.9 SLC4A1 Louise Daugherty Added phenotypes 612653 Spherocytosis, type 4; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis for gene: SLC4A1
Publications for gene SLC4A1 were changed from 8608262; 7949112; 8471774; 16227998; 8547122; 2146504; 1722314; 8282779 to 1722314
Rare anaemia v0.9 SLC2A1 Louise Daugherty Added phenotypes 608885 Stomatin-deficient cryohydrocytosis with neurologic defects for gene: SLC2A1
Publications for gene SLC2A1 were changed from 22492876; 21791420; 15180870 to 22492876; 21791420
Rare anaemia v0.9 RHAG Louise Daugherty Added phenotypes 185000 Overhydrated hereditary stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
Publications for gene RHAG were changed from 3920829; 21849667; 9716608; 9746795; 2917122; 8563755; 9454778 to 18931342
Rare anaemia v0.9 PIEZO1 Louise Daugherty Added phenotypes 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema for gene: PIEZO1
Publications for gene PIEZO1 were changed from 22529292; 23973043; 23695678; 23479567; 16898969; 23581886 to 23695678; 22529292
Rare anaemia v0.9 KCNN4 Louise Daugherty Added phenotypes 616689 Dehydrated hereditary stomatocytosis 2 for gene: KCNN4
Publications for gene KCNN4 were changed from to 26178367; 26148990
Rare anaemia v0.9 EPB42 Louise Daugherty Added phenotypes 612690 Spherocytosis, type 5 for gene: EPB42
Publications for gene EPB42 were changed from 15071790; 7772513; 7803799; 2386772; 1558976 to 12176912; 7772513; 1558976
Rare anaemia v0.9 EPB41 Louise Daugherty Added phenotypes 611804 Elliptocytosis-1 for gene: EPB41
Publications for gene EPB41 were changed from 1430200; 3755799; 3134067 to 8423235; 1430200; 3134067
Rare anaemia v0.9 ANK1 Louise Daugherty Added phenotypes 182900 Spherocytosis, type 1 for gene: ANK1
Publications for gene ANK1 were changed from 1832935; 17327413; 8640229 to 7883994; 11167760; 9590147
Rare anaemia v0.9 AK1 Louise Daugherty Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1
Publications for gene AK1 were changed from to 10233365; 9432020; 12649162
Rare anaemia v0.8 UMPS Louise Daugherty Source NHS GMS was added to UMPS.
Rare anaemia v0.8 GIF Louise Daugherty Source NHS GMS was added to GIF.
Rare anaemia v0.8 FTCD Louise Daugherty Source NHS GMS was added to FTCD.
Rare anaemia v0.8 SF3B1 Louise Daugherty Source NHS GMS was added to SF3B1.
Rare anaemia v0.8 HBE1 Louise Daugherty Source NHS GMS was added to HBE1.
Rare anaemia v0.8 ATRX Louise Daugherty Source NHS GMS was added to ATRX.
Rare anaemia v0.8 PGK1 Louise Daugherty Source NHS GMS was added to PGK1.
Rare anaemia v0.8 GPX1 Louise Daugherty Source NHS GMS was added to GPX1.
Rare anaemia v0.8 CYB5A Louise Daugherty Source NHS GMS was added to CYB5A.
Rare anaemia v0.8 XK Louise Daugherty Source NHS GMS was added to XK.
Rare anaemia v0.7 UMPS Louise Daugherty gene: UMPS was added
gene: UMPS was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: UMPS was set to
Rare anaemia v0.7 TCN2 Louise Daugherty Source London South GLH was added to TCN2.
Rare anaemia v0.7 HSPA9 Louise Daugherty Source London South GLH was added to HSPA9.
Rare anaemia v0.7 MTRR Louise Daugherty Source London South GLH was added to MTRR.
Rare anaemia v0.7 MTR Louise Daugherty Source London South GLH was added to MTR.
Rare anaemia v0.7 GIF Louise Daugherty gene: GIF was added
gene: GIF was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: GIF was set to
Rare anaemia v0.7 FTCD Louise Daugherty gene: FTCD was added
gene: FTCD was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: FTCD was set to
Rare anaemia v0.7 DHFR Louise Daugherty Source London South GLH was added to DHFR.
Rare anaemia v0.7 CUBN Louise Daugherty Source London South GLH was added to CUBN.
Rare anaemia v0.7 AMN Louise Daugherty Source London South GLH was added to AMN.
Rare anaemia v0.7 YARS2 Louise Daugherty Source London South GLH was added to YARS2.
Rare anaemia v0.7 SLC25A38 Louise Daugherty Source London South GLH was added to SLC25A38.
Rare anaemia v0.7 SLC19A2 Louise Daugherty Source London South GLH was added to SLC19A2.
Rare anaemia v0.7 SF3B1 Louise Daugherty gene: SF3B1 was added
gene: SF3B1 was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: SF3B1 was set to
Rare anaemia v0.7 PUS1 Louise Daugherty Source London South GLH was added to PUS1.
Rare anaemia v0.7 GLRX5 Louise Daugherty Source London South GLH was added to GLRX5.
Rare anaemia v0.7 ALAS2 Louise Daugherty Source London South GLH was added to ALAS2.
Rare anaemia v0.7 ABCB7 Louise Daugherty Source London South GLH was added to ABCB7.
Rare anaemia v0.7 RPS29 Louise Daugherty Source London South GLH was added to RPS29.
Rare anaemia v0.7 RPS26 Louise Daugherty Source London South GLH was added to RPS26.
Rare anaemia v0.7 RPS24 Louise Daugherty Source London South GLH was added to RPS24.
Rare anaemia v0.7 RPS19 Louise Daugherty Source London South GLH was added to RPS19.
Rare anaemia v0.7 RPS7 Louise Daugherty Source London South GLH was added to RPS7.
Rare anaemia v0.7 RPL35A Louise Daugherty Source London South GLH was added to RPL35A.
Rare anaemia v0.7 RPL27 Louise Daugherty Source London South GLH was added to RPL27.
Rare anaemia v0.7 RPL26 Louise Daugherty Source London South GLH was added to RPL26.
Rare anaemia v0.7 RPL15 Louise Daugherty Source London South GLH was added to RPL15.
Rare anaemia v0.7 RPL11 Louise Daugherty Source London South GLH was added to RPL11.
Rare anaemia v0.7 RPS10 Louise Daugherty Source London South GLH was added to RPS10.
Rare anaemia v0.7 RPL9 Louise Daugherty Source London South GLH was added to RPL9.
Rare anaemia v0.7 RPL5 Louise Daugherty Source London South GLH was added to RPL5.
Rare anaemia v0.7 HBG2 Louise Daugherty Source London South GLH was added to HBG2.
Rare anaemia v0.7 HBG1 Louise Daugherty Source London South GLH was added to HBG1.
Rare anaemia v0.7 HBE1 Louise Daugherty gene: HBE1 was added
gene: HBE1 was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: HBE1 was set to
Rare anaemia v0.7 HBD Louise Daugherty Source London South GLH was added to HBD.
Rare anaemia v0.7 HBB Louise Daugherty Source London South GLH was added to HBB.
Rare anaemia v0.7 HBA2 Louise Daugherty Source London South GLH was added to HBA2.
Rare anaemia v0.7 HBA1 Louise Daugherty Source London South GLH was added to HBA1.
Rare anaemia v0.7 ATRX Louise Daugherty gene: ATRX was added
gene: ATRX was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: ATRX was set to
Rare anaemia v0.7 SEC23B Louise Daugherty Source London South GLH was added to SEC23B.
Rare anaemia v0.7 LPIN2 Louise Daugherty Source London South GLH was added to LPIN2.
Rare anaemia v0.7 KLF1 Louise Daugherty Source London South GLH was added to KLF1.
Rare anaemia v0.7 KIF23 Louise Daugherty Source London South GLH was added to KIF23.
Rare anaemia v0.7 GATA1 Louise Daugherty Source London South GLH was added to GATA1.
Rare anaemia v0.7 COX4I2 Louise Daugherty Source London South GLH was added to COX4I2.
Rare anaemia v0.7 C15orf41 Louise Daugherty Source London South GLH was added to C15orf41.
Rare anaemia v0.7 CDAN1 Louise Daugherty Source London South GLH was added to CDAN1.
Rare anaemia v0.7 TPI1 Louise Daugherty Source London South GLH was added to TPI1.
Rare anaemia v0.7 PKLR Louise Daugherty Source London South GLH was added to PKLR.
Rare anaemia v0.7 PGK1 Louise Daugherty gene: PGK1 was added
gene: PGK1 was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: PGK1 was set to
Rare anaemia v0.7 PFKM Louise Daugherty Source London South GLH was added to PFKM.
Rare anaemia v0.7 NT5C3A Louise Daugherty Source London South GLH was added to NT5C3A.
Rare anaemia v0.7 HK1 Louise Daugherty Source London South GLH was added to HK1.
Rare anaemia v0.7 GSS Louise Daugherty Source London South GLH was added to GSS.
Rare anaemia v0.7 GPX1 Louise Daugherty gene: GPX1 was added
gene: GPX1 was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: GPX1 was set to
Rare anaemia v0.7 GPI Louise Daugherty Source London South GLH was added to GPI.
Rare anaemia v0.7 GCLC Louise Daugherty Source London South GLH was added to GCLC.
Rare anaemia v0.7 G6PD Louise Daugherty Source London South GLH was added to G6PD.
Rare anaemia v0.7 CYB5R3 Louise Daugherty Source London South GLH was added to CYB5R3.
Rare anaemia v0.7 CYB5A Louise Daugherty gene: CYB5A was added
gene: CYB5A was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: CYB5A was set to
Rare anaemia v0.7 ALDOA Louise Daugherty Source London South GLH was added to ALDOA.
Rare anaemia v0.7 XK Louise Daugherty gene: XK was added
gene: XK was added to Rare anaemia. Sources: London South GLH
Mode of inheritance for gene: XK was set to
Rare anaemia v0.7 SPTB Louise Daugherty Source London South GLH was added to SPTB.
Rare anaemia v0.7 SPTA1 Louise Daugherty Source London South GLH was added to SPTA1.
Rare anaemia v0.7 SLC4A1 Louise Daugherty Source London South GLH was added to SLC4A1.
Rare anaemia v0.7 SLC2A1 Louise Daugherty Source London South GLH was added to SLC2A1.
Rare anaemia v0.7 RHAG Louise Daugherty Source London South GLH was added to RHAG.
Rare anaemia v0.7 PIEZO1 Louise Daugherty Source London South GLH was added to PIEZO1.
Rare anaemia v0.7 KCNN4 Louise Daugherty Source London South GLH was added to KCNN4.
Rare anaemia v0.7 EPB42 Louise Daugherty Source London South GLH was added to EPB42.
Rare anaemia v0.7 EPB41 Louise Daugherty Source London South GLH was added to EPB41.
Rare anaemia v0.7 ANK1 Louise Daugherty Source London South GLH was added to ANK1.
Rare anaemia v0.7 AK1 Louise Daugherty Source London South GLH was added to AK1.
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE2 Louise Daugherty commented on gene: HFE2: New HGNC approved gene symbol for HFE2 is HJV
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE2 Louise Daugherty Tag new-gene-name tag was added to gene: HFE2.
Cytopenia - NOT Fanconi anaemia v0.13 EFL1 Louise Daugherty Source Expert Review Green was added to EFL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 JAGN1 Louise Daugherty Source Expert Review Green was added to JAGN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 ETV6 Louise Daugherty Source Expert Review Green was added to ETV6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 THPO Louise Daugherty Source Expert Review Green was added to THPO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 STIM1 Louise Daugherty Source Expert Review Green was added to STIM1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 DDX41 Louise Daugherty Source Expert Review Green was added to DDX41.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 MECOM Louise Daugherty Source Expert Review Green was added to MECOM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 SLC37A4 Louise Daugherty Source Expert Review Green was added to SLC37A4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 ACKR1 Louise Daugherty Source Expert Review Amber was added to ACKR1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v0.13 TUBB1 Louise Daugherty Source Expert Review Red was added to TUBB1.
Cytopenia - NOT Fanconi anaemia v0.13 RBM8A Louise Daugherty Source Expert Review Green was added to RBM8A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 NBEAL2 Louise Daugherty Source Expert Review Green was added to NBEAL2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 MYH9 Louise Daugherty Source Expert Review Green was added to MYH9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 GP1BA Louise Daugherty Source Expert Review Green was added to GP1BA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 ANKRD26 Louise Daugherty Source Expert Review Green was added to ANKRD26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 RUNX1 Louise Daugherty Source Expert Review Green was added to RUNX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 SMARCAL1 Louise Daugherty Source Expert Review Green was added to SMARCAL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 PARN Louise Daugherty Source Expert Review Green was added to PARN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 MPL Louise Daugherty Source Expert Review Green was added to MPL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 LIG4 Louise Daugherty Source Expert Review Green was added to LIG4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.13 HOXA11 Louise Daugherty Source Expert Review Red was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.13 ACD Louise Daugherty Source Expert Review Green was added to ACD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.12 EFL1 Louise Daugherty Mode of inheritance for gene EFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
Cytopenia - NOT Fanconi anaemia v0.12 JAGN1 Louise Daugherty Mode of inheritance for gene JAGN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1
Cytopenia - NOT Fanconi anaemia v0.12 ETV6 Louise Daugherty Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Cytopenia - NOT Fanconi anaemia v0.12 THPO Louise Daugherty Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 187950 Thrombocythemia 1 for gene: THPO
Cytopenia - NOT Fanconi anaemia v0.12 STIM1 Louise Daugherty Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Cytopenia - NOT Fanconi anaemia v0.12 DDX41 Louise Daugherty Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41
Cytopenia - NOT Fanconi anaemia v0.12 MECOM Louise Daugherty Mode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Cytopenia - NOT Fanconi anaemia v0.12 SLC37A4 Louise Daugherty Mode of inheritance for gene SLC37A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4
Cytopenia - NOT Fanconi anaemia v0.12 ACKR1 Louise Daugherty Mode of inheritance for gene ACKR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1
Cytopenia - NOT Fanconi anaemia v0.12 TUBB1 Louise Daugherty Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1
Cytopenia - NOT Fanconi anaemia v0.12 RBM8A Louise Daugherty Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Cytopenia - NOT Fanconi anaemia v0.12 NBEAL2 Louise Daugherty Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Cytopenia - NOT Fanconi anaemia v0.12 MYH9 Louise Daugherty Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 155100 Macrothrombocytopenia for gene: MYH9
Cytopenia - NOT Fanconi anaemia v0.12 GP1BA Louise Daugherty Mode of inheritance for gene GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA
Cytopenia - NOT Fanconi anaemia v0.12 ANKRD26 Louise Daugherty Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Cytopenia - NOT Fanconi anaemia v0.12 RUNX1 Louise Daugherty Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Cytopenia - NOT Fanconi anaemia v0.12 SMARCAL1 Louise Daugherty Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1
Cytopenia - NOT Fanconi anaemia v0.12 PARN Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v0.12 MPL Louise Daugherty Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 601977 Thrombocythemia 2; 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Cytopenia - NOT Fanconi anaemia v0.12 LIG4 Louise Daugherty Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 606593 LIG4 syndrome for gene: LIG4
Cytopenia - NOT Fanconi anaemia v0.12 HOXA11 Louise Daugherty Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Cytopenia - NOT Fanconi anaemia v0.12 ACD Louise Daugherty Mode of inheritance for gene ACD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Cytopenia - NOT Fanconi anaemia v0.11 USB1 Louise Daugherty commented on gene: USB1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; 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: 604173 Poikiloderma with neutropenia; PMID(s): 20004881; 20503306
Cytopenia - NOT Fanconi anaemia v0.11 EFL1 Louise Daugherty reviewed gene: EFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 JAGN1 Louise Daugherty reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 VPS45 Louise Daugherty commented on gene: VPS45: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; 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: 615285 Neutropenia, severe congenital, 5; PMID(s): 23738510; 23599270
Cytopenia - NOT Fanconi anaemia v0.11 CSF3R Louise Daugherty commented on gene: CSF3R: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; 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: 617014 Neutropenia, severe congenital, 7; PMID(s): 19620628; 12203110; 26324699
Cytopenia - NOT Fanconi anaemia v0.11 ETV6 Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Red List (low 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): 27743390
Cytopenia - NOT Fanconi anaemia v0.11 THPO Louise Daugherty reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 SAMD9L Louise Daugherty commented on gene: SAMD9L: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested intial gene rating: Red List (low 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): 27259050
Cytopenia - NOT Fanconi anaemia v0.11 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 DNAJC21 Louise Daugherty commented on gene: DNAJC21: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; 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: 617052 Bone marrow failure syndrome 3; PMID(s): 27346687
Cytopenia - NOT Fanconi anaemia v0.11 DDX41 Louise Daugherty reviewed gene: DDX41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 ERCC6L2 Louise Daugherty commented on gene: ERCC6L2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; 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: 615715 Bone marrow failure syndrome 2; PMID(s): 24507776; 27185855
Cytopenia - NOT Fanconi anaemia v0.11 MECOM Louise Daugherty reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 SAMD9 Louise Daugherty commented on gene: SAMD9: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested intial gene rating: Red List (low 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): 27182967
Cytopenia - NOT Fanconi anaemia v0.11 TAZ Louise Daugherty commented on gene: TAZ: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; 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: 302060 Barth syndrome; PMID(s): 9382096; 9345098
Cytopenia - NOT Fanconi anaemia v0.11 SLC37A4 Louise Daugherty reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 HAX1 Louise Daugherty commented on gene: HAX1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; 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: 610738 Neutropenia, severe congenital 3; PMID(s): 17187068; 18337561; 18611981
Cytopenia - NOT Fanconi anaemia v0.11 GFI1 Louise Daugherty commented on gene: GFI1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613107 Neutropenia, severe congenital 2; PMID(s): 12778173
Cytopenia - NOT Fanconi anaemia v0.11 G6PC3 Louise Daugherty commented on gene: G6PC3: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; 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: 612541 Neutropenia, severe congenital 4; PMID(s): 19696212; 20717171; 19118303
Cytopenia - NOT Fanconi anaemia v0.11 ELANE Louise Daugherty commented on gene: ELANE: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; 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: 162800 Cyclic neutropenia;202700 Neutropenia, severe congenital 1; PMID(s): 10581030; 11001877; 18028488
Cytopenia - NOT Fanconi anaemia v0.11 CXCR4 Louise Daugherty commented on gene: CXCR4: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; 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: 193670 WHIM syndrome; PMID(s): 10767001; 12692554
Cytopenia - NOT Fanconi anaemia v0.11 ADA2 Louise Daugherty commented on gene: ADA2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADA2; 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: 615688 Polyarteritis nodosa/Sneddon sydrome; PMID(s): 24552284; 24552285; 25075847
Cytopenia - NOT Fanconi anaemia v0.11 ACKR1 Louise Daugherty reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; 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: 313900 Thrombocytopenia; PMID(s): 8757563; 8528199; 11167787
Cytopenia - NOT Fanconi anaemia v0.11 TUBB1 Louise Daugherty reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 RBM8A Louise Daugherty reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 NBEAL2 Louise Daugherty reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 MYH9 Louise Daugherty reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 GP1BA Louise Daugherty reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 ANKRD26 Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 RUNX1 Louise Daugherty reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 GATA2 Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: 614038 Emberger syndrome; PMID(s): 21892158; 21892162
Cytopenia - NOT Fanconi anaemia v0.11 WRAP53 Louise Daugherty commented on gene: WRAP53: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; 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: 613988 Dyskeratosis congenita, autosomal recessive 3; PMID(s): 29514627; 21205863
Cytopenia - NOT Fanconi anaemia v0.11 TINF2 Louise Daugherty commented on gene: TINF2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; 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: 613990 Dyskeratosis congenita, autosomal dominant 3; 268130 Revesz syndrome; PMID(s): 21536674; 18669893
Cytopenia - NOT Fanconi anaemia v0.11 TERT Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: 613989 Dyskeratosis congenita;614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; PMID(s): 21436073; 18042801; 18460650
Cytopenia - NOT Fanconi anaemia v0.11 TERC Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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: 127550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): 11574891; 12090986
Cytopenia - NOT Fanconi anaemia v0.11 SRP72 Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; 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: 614675 Bone marrow failure syndrome 1; PMID(s): 22541560
Cytopenia - NOT Fanconi anaemia v0.11 SMARCAL1 Louise Daugherty reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 SBDS Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South 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): 12496757
Cytopenia - NOT Fanconi anaemia v0.11 RTEL1 Louise Daugherty commented on gene: RTEL1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; 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: 615190 Dyskeratosis congenita;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3; PMID(s): 23329068; 23959892; 23453664
Cytopenia - NOT Fanconi anaemia v0.11 RMRP Louise Daugherty commented on gene: RMRP: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RMRP; 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: 250250 Cartilage-hair hypoplasia; PMID(s): 11207361; 16832578
Cytopenia - NOT Fanconi anaemia v0.11 PARN Louise Daugherty reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 NOP10 Louise Daugherty commented on gene: NOP10: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NOP10; 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: 224230 Dyskeratosis congenita, autosomal recessive 1; PMID(s): 17507419
Cytopenia - NOT Fanconi anaemia v0.11 NHP2 Louise Daugherty commented on gene: NHP2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; 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: 613987 Dyskeratosis congenita, autosomal recessive 2; PMID(s): 18523010
Cytopenia - NOT Fanconi anaemia v0.11 MPL Louise Daugherty reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 MASTL Louise Daugherty commented on gene: MASTL: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MASTL; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thrombocytopenia; PMID(s): 10891439; 22102272; 26136524
Cytopenia - NOT Fanconi anaemia v0.11 LIG4 Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 HOXA11 Louise Daugherty reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.11 DKC1 Louise Daugherty commented on gene: DKC1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; 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: 305000 Dyskeratosis congenita; PMID(s): 9888995; 11379875; 10364516
Cytopenia - NOT Fanconi anaemia v0.11 CTC1 Louise Daugherty commented on gene: CTC1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; 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: 612199 Coats plus syndrome; PMID(s): 22532422; 22267198; 22387016; 22899577
Cytopenia - NOT Fanconi anaemia v0.11 ACD Louise Daugherty reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.10 USB1 Frances Smith reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604173 Poikiloderma with neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 EFL1 Frances Smith 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 v0.10 JAGN1 Frances Smith reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.10 VPS45 Frances Smith reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.10 CSF3R Frances Smith reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617014 Neutropenia, severe congenital, 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.10 ETV6 Frances Smith 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 v0.10 MPIG6B Frances Smith reviewed gene: MPIG6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.10 THPO Frances Smith 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 v0.10 SAMD9L Frances Smith reviewed gene: SAMD9L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 159550 Ataxia-pancytopenia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.10 STIM1 Frances Smith reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.10 DNAJC21 Frances Smith 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 v0.10 DDX41 Frances Smith reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 Susceptibility to myeloid neoplasms; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.10 ERCC6L2 Frances Smith 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 v0.10 MECOM Frances Smith 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 v0.10 SAMD9 Frances Smith reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 617053 MIRAGE syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenia - NOT Fanconi anaemia v0.10 TAZ Frances Smith 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; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 SLC37A4 Frances Smith reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 232220 Glycogen storage disease Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 HAX1 Frances Smith reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 GFI1 Frances Smith reviewed gene: GFI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 613107 Neutropenia, severe congenital 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 G6PC3 Frances Smith reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 ELANE Frances Smith reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 162800 Cyclic neutropenia, 202700 Neutropenia, severe congenital 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 CXCR4 Frances Smith reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 ADA2 Frances Smith reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615688 Polyarteritis nodosa/Sneddon sydrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 ACKR1 Frances Smith reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 613665 Benign hereditary neutropenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 WAS Frances Smith reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 TUBB1 Frances Smith reviewed gene: TUBB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 RBM8A Frances Smith reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 NBEAL2 Frances Smith reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 MYH9 Frances Smith reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100 Macrothrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 GP1BA Frances Smith reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 Bernard-Soulier syndrome, type A1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 ANKRD26 Frances Smith reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 RUNX1 Frances Smith 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, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 GATA2 Frances Smith reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 WRAP53 Frances Smith reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613988 Dyskeratosis congenita, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 TINF2 Frances Smith reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3, 268130 Revesz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 TERT Frances Smith reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613989 Dyskeratosis congenita, 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 v0.10 TERC Frances Smith reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 SRP72 Frances Smith 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 v0.10 SMARCAL1 Frances Smith reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 242900 Schimke immunoosseous dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 SBDS Frances Smith 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 v0.10 RTEL1 Frances Smith reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615190 Dyskeratosis congenita, 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 RMRP Frances Smith reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250250 Cartilage-hair hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 PARN Frances Smith reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616353 Dyskeratosis congenita, autosomal recessive 6,, 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 NOP10 Frances Smith reviewed gene: NOP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224230 Dyskeratosis congenita, autosomal recessive 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 NHP2 Frances Smith reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 MPL Frances Smith reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601977 Thrombocythemia 2, 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 MASTL Frances Smith reviewed gene: MASTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia; Mode of inheritance: Unknown; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 LIG4 Frances Smith reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606593 LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 HOXA11 Frances Smith reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 DKC1 Frances Smith 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; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 CTC1 Frances Smith reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612199 Coats plus syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.10 ACD Frances Smith 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; Current diagnostic: yes
Cytopenia - NOT Fanconi anaemia v0.9 USB1 Louise Daugherty Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1
Publications for gene USB1 were changed from to 20503306; 20004881
Cytopenia - NOT Fanconi anaemia v0.9 EFL1 Louise Daugherty Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
Publications for gene EFL1 were changed from to 28331068
Cytopenia - NOT Fanconi anaemia v0.9 JAGN1 Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6 for gene: JAGN1
Publications for gene JAGN1 were changed from to 25129144
Cytopenia - NOT Fanconi anaemia v0.9 VPS45 Louise Daugherty Added phenotypes 615285 Neutropenia, severe congenital, 5 for gene: VPS45
Cytopenia - NOT Fanconi anaemia v0.9 CSF3R Louise Daugherty Added phenotypes 617014 Neutropenia, severe congenital, 7 for gene: CSF3R
Publications for gene CSF3R were changed from 26324699; 24753537; 9001427 to 26324699; 12203110; 19620628
Cytopenia - NOT Fanconi anaemia v0.9 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Publications for gene ETV6 were changed from to 25581430; 25807284
Cytopenia - NOT Fanconi anaemia v0.9 MPIG6B Louise Daugherty Added phenotypes 617441 Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Cytopenia - NOT Fanconi anaemia v0.9 THPO Louise Daugherty Added phenotypes 187950 Thrombocythemia 1 for gene: THPO
Publications for gene THPO were changed from to 19553636; 10583217
Cytopenia - NOT Fanconi anaemia v0.9 SAMD9L Louise Daugherty Added phenotypes 159550 Ataxia-pancytopenia syndrome for gene: SAMD9L
Publications for gene SAMD9L were changed from 27259050; 28202457 to 27259050
Cytopenia - NOT Fanconi anaemia v0.9 STIM1 Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Publications for gene STIM1 were changed from to 25577287
Cytopenia - NOT Fanconi anaemia v0.9 DNAJC21 Louise Daugherty Added phenotypes 617052 Bone marrow failure syndrome 3 for gene: DNAJC21
Publications for gene DNAJC21 were changed from 27346687; 29700810; 28062395 to 27346687
Cytopenia - NOT Fanconi anaemia v0.9 DDX41 Louise Daugherty Added phenotypes 616871 Susceptibility to myeloid neoplasms for gene: DDX41
Publications for gene DDX41 were changed from to 25920683; 26712909
Cytopenia - NOT Fanconi anaemia v0.9 ERCC6L2 Louise Daugherty Added phenotypes 615715 Bone marrow failure syndrome 2 for gene: ERCC6L2
Cytopenia - NOT Fanconi anaemia v0.9 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Publications for gene MECOM were changed from to 20091385; 26581901
Cytopenia - NOT Fanconi anaemia v0.9 SAMD9 Louise Daugherty Added phenotypes 617053 MIRAGE syndrome for gene: SAMD9
Cytopenia - NOT Fanconi anaemia v0.9 TAZ Louise Daugherty Added phenotypes 302060 Barth syndrome for gene: TAZ
Publications for gene TAZ were changed from to 9345098; 9382096
Cytopenia - NOT Fanconi anaemia v0.9 SLC37A4 Louise Daugherty Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4
Publications for gene SLC37A4 were changed from to 9428641; 9675154
Cytopenia - NOT Fanconi anaemia v0.9 HAX1 Louise Daugherty Added phenotypes 610738 Neutropenia, severe congenital 3 for gene: HAX1
Publications for gene HAX1 were changed from 17187068; 10581030; 18024606; 18337561 to 18611981; 17187068; 18337561
Cytopenia - NOT Fanconi anaemia v0.9 GFI1 Louise Daugherty Added phenotypes 613107 Neutropenia, severe congenital 2 for gene: GFI1
Publications for gene GFI1 were changed from 12530980; 12778173; 11810106; 19775295 to 12778173
Cytopenia - NOT Fanconi anaemia v0.9 G6PC3 Louise Daugherty Added phenotypes 612541 Neutropenia, severe congenital 4 for gene: G6PC3
Publications for gene G6PC3 were changed from 19118303 to 19696212; 19118303; 20717171
Cytopenia - NOT Fanconi anaemia v0.9 ELANE Louise Daugherty Added phenotypes 202700 Neutropenia, severe congenital 1; 162800 Cyclic neutropenia for gene: ELANE
Publications for gene ELANE were changed from 10581030; 11675333 to 18028488; 11001877; 10581030
Cytopenia - NOT Fanconi anaemia v0.9 CXCR4 Louise Daugherty Added phenotypes 193670 WHIM syndrome for gene: CXCR4
Publications for gene CXCR4 were changed from 12692554; 15536153 to 10767001; 12692554
Cytopenia - NOT Fanconi anaemia v0.9 ADA2 Louise Daugherty Added phenotypes 615688 Polyarteritis nodosa/Sneddon sydrome for gene: ADA2
Publications for gene ADA2 were changed from to 25075847; 24552285; 24552284
Cytopenia - NOT Fanconi anaemia v0.9 ACKR1 Louise Daugherty Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1
Cytopenia - NOT Fanconi anaemia v0.9 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia for gene: WAS
Publications for gene WAS were changed from 16804117 to 8528199; 8757563; 11167787
Cytopenia - NOT Fanconi anaemia v0.9 TUBB1 Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1
Publications for gene TUBB1 were changed from to 18849486
Cytopenia - NOT Fanconi anaemia v0.9 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Publications for gene RBM8A were changed from to 22366785; 17236129
Cytopenia - NOT Fanconi anaemia v0.9 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Publications for gene NBEAL2 were changed from to 20709904
Cytopenia - NOT Fanconi anaemia v0.9 MYH9 Louise Daugherty Added phenotypes 155100 Macrothrombocytopenia for gene: MYH9
Publications for gene MYH9 were changed from to 20174760
Cytopenia - NOT Fanconi anaemia v0.9 GP1BA Louise Daugherty Added phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA
Publications for gene GP1BA were changed from to 2308962
Cytopenia - NOT Fanconi anaemia v0.9 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Publications for gene ANKRD26 were changed from to 2121161; 20626622
Cytopenia - NOT Fanconi anaemia v0.9 RUNX1 Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Publications for gene RUNX1 were changed from to 19357396; 9746808
Cytopenia - NOT Fanconi anaemia v0.9 GATA2 Louise Daugherty Added phenotypes 614038 Emberger syndrome for gene: GATA2
Publications for gene GATA2 were changed from 27418648; 21892162 to 21892158; 21892162
Cytopenia - NOT Fanconi anaemia v0.9 WRAP53 Louise Daugherty Added phenotypes 613988 Dyskeratosis congenita, autosomal recessive 3 for gene: WRAP53
Publications for gene WRAP53 were changed from to 29514627; 21205863
Cytopenia - NOT Fanconi anaemia v0.9 TINF2 Louise Daugherty Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3; 268130 Revesz syndrome for gene: TINF2
Publications for gene TINF2 were changed from to 18669893; 21536674
Cytopenia - NOT Fanconi anaemia v0.9 TERT Louise Daugherty Added phenotypes 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; 613989 Dyskeratosis congenita for gene: TERT
Publications for gene TERT were changed from 15885610; 19179534; 15814878 to 21436073; 18460650; 18042801
Cytopenia - NOT Fanconi anaemia v0.9 TERC Louise Daugherty Added phenotypes 127550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC
Publications for gene TERC were changed from to 11574891; 12090986
Cytopenia - NOT Fanconi anaemia v0.9 SRP72 Louise Daugherty Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72
Publications for gene SRP72 were changed from to 22541560
Cytopenia - NOT Fanconi anaemia v0.9 SMARCAL1 Louise Daugherty Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1
Publications for gene SMARCAL1 were changed from to 17089404
Cytopenia - NOT Fanconi anaemia v0.9 SBDS Louise Daugherty Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS
Publications for gene SBDS were changed from 14749921; 12496757 to 12496757
Cytopenia - NOT Fanconi anaemia v0.9 RTEL1 Louise Daugherty Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3; 615190 Dyskeratosis congenita for gene: RTEL1
Publications for gene RTEL1 were changed from 23591994; 23453664; 23329068 to 23453664; 23329068; 23959892
Cytopenia - NOT Fanconi anaemia v0.9 RMRP Louise Daugherty Added phenotypes 250250 Cartilage-hair hypoplasia for gene: RMRP
Publications for gene RMRP were changed from 11207361 to 11207361; 16832578
Cytopenia - NOT Fanconi anaemia v0.9 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
Publications for gene PARN were changed from to 25848748; 26342108; 25893599
Cytopenia - NOT Fanconi anaemia v0.9 NOP10 Louise Daugherty Added phenotypes 224230 Dyskeratosis congenita, autosomal recessive 1 for gene: NOP10
Cytopenia - NOT Fanconi anaemia v0.9 NHP2 Louise Daugherty Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
Cytopenia - NOT Fanconi anaemia v0.9 MPL Louise Daugherty Added phenotypes 601977 Thrombocythemia 2; 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Publications for gene MPL were changed from to 11133753; 10077649
Cytopenia - NOT Fanconi anaemia v0.9 MASTL Louise Daugherty Added phenotypes Thrombocytopenia for gene: MASTL
Publications for gene MASTL were changed from 12890928; 26136524; 21211618 to 10891439; 26136524; 22102272
Cytopenia - NOT Fanconi anaemia v0.9 LIG4 Louise Daugherty Added phenotypes 606593 LIG4 syndrome for gene: LIG4
Publications for gene LIG4 were changed from to 20133615; 16088910; 11779494
Cytopenia - NOT Fanconi anaemia v0.9 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Publications for gene HOXA11 were changed from to 20091385; 11101832
Cytopenia - NOT Fanconi anaemia v0.9 DKC1 Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1
Publications for gene DKC1 were changed from 10583221; 9590285; 9590276; 10217077 to 10364516; 9888995; 11379875
Cytopenia - NOT Fanconi anaemia v0.9 CTC1 Louise Daugherty Added phenotypes 612199 Coats plus syndrome for gene: CTC1
Publications for gene CTC1 were changed from 22532422; 22899577 to 22532422; 22899577; 22267198; 22387016
Cytopenia - NOT Fanconi anaemia v0.9 ACD Louise Daugherty Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Publications for gene ACD were changed from to 25233904; 25205116
Cytopenia - NOT Fanconi anaemia v0.8 EFL1 Louise Daugherty Source NHS GMS was added to EFL1.
Cytopenia - NOT Fanconi anaemia v0.8 JAGN1 Louise Daugherty Source NHS GMS was added to JAGN1.
Cytopenia - NOT Fanconi anaemia v0.8 ETV6 Louise Daugherty Source NHS GMS was added to ETV6.
Cytopenia - NOT Fanconi anaemia v0.8 THPO Louise Daugherty Source NHS GMS was added to THPO.
Cytopenia - NOT Fanconi anaemia v0.8 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Cytopenia - NOT Fanconi anaemia v0.8 DDX41 Louise Daugherty Source NHS GMS was added to DDX41.
Cytopenia - NOT Fanconi anaemia v0.8 MECOM Louise Daugherty Source NHS GMS was added to MECOM.
Cytopenia - NOT Fanconi anaemia v0.8 SLC37A4 Louise Daugherty Source NHS GMS was added to SLC37A4.
Cytopenia - NOT Fanconi anaemia v0.8 ACKR1 Louise Daugherty Source NHS GMS was added to ACKR1.
Cytopenia - NOT Fanconi anaemia v0.8 TUBB1 Louise Daugherty Source NHS GMS was added to TUBB1.
Cytopenia - NOT Fanconi anaemia v0.8 RBM8A Louise Daugherty Source NHS GMS was added to RBM8A.
Cytopenia - NOT Fanconi anaemia v0.8 NBEAL2 Louise Daugherty Source NHS GMS was added to NBEAL2.
Cytopenia - NOT Fanconi anaemia v0.8 MYH9 Louise Daugherty Source NHS GMS was added to MYH9.
Cytopenia - NOT Fanconi anaemia v0.8 GP1BA Louise Daugherty Source NHS GMS was added to GP1BA.
Cytopenia - NOT Fanconi anaemia v0.8 ANKRD26 Louise Daugherty Source NHS GMS was added to ANKRD26.
Cytopenia - NOT Fanconi anaemia v0.8 RUNX1 Louise Daugherty Source NHS GMS was added to RUNX1.
Cytopenia - NOT Fanconi anaemia v0.8 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Cytopenia - NOT Fanconi anaemia v0.8 PARN Louise Daugherty Source NHS GMS was added to PARN.
Cytopenia - NOT Fanconi anaemia v0.8 MPL Louise Daugherty Source NHS GMS was added to MPL.
Cytopenia - NOT Fanconi anaemia v0.8 LIG4 Louise Daugherty Source NHS GMS was added to LIG4.
Cytopenia - NOT Fanconi anaemia v0.8 HOXA11 Louise Daugherty Source NHS GMS was added to HOXA11.
Cytopenia - NOT Fanconi anaemia v0.8 ACD Louise Daugherty Source NHS GMS was added to ACD.
Cytopenia - NOT Fanconi anaemia v0.7 USB1 Louise Daugherty Source London South GLH was added to USB1.
Cytopenia - NOT Fanconi anaemia v0.7 EFL1 Louise Daugherty gene: EFL1 was added
gene: EFL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: EFL1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 JAGN1 Louise Daugherty gene: JAGN1 was added
gene: JAGN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: JAGN1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 VPS45 Louise Daugherty Source London South GLH was added to VPS45.
Cytopenia - NOT Fanconi anaemia v0.7 CSF3R Louise Daugherty Source London South GLH was added to CSF3R.
Cytopenia - NOT Fanconi anaemia v0.7 ETV6 Louise Daugherty gene: ETV6 was added
gene: ETV6 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ETV6 was set to
Cytopenia - NOT Fanconi anaemia v0.7 MPIG6B Louise Daugherty Source London South GLH was added to MPIG6B.
Cytopenia - NOT Fanconi anaemia v0.7 THPO Louise Daugherty gene: THPO was added
gene: THPO was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: THPO was set to
Cytopenia - NOT Fanconi anaemia v0.7 SAMD9L Louise Daugherty Source London South GLH was added to SAMD9L.
Cytopenia - NOT Fanconi anaemia v0.7 STIM1 Louise Daugherty gene: STIM1 was added
gene: STIM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: STIM1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 DNAJC21 Louise Daugherty Source London South GLH was added to DNAJC21.
Cytopenia - NOT Fanconi anaemia v0.7 DDX41 Louise Daugherty gene: DDX41 was added
gene: DDX41 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: DDX41 was set to
Cytopenia - NOT Fanconi anaemia v0.7 ERCC6L2 Louise Daugherty Source London South GLH was added to ERCC6L2.
Cytopenia - NOT Fanconi anaemia v0.7 MECOM Louise Daugherty gene: MECOM was added
gene: MECOM was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: MECOM was set to
Cytopenia - NOT Fanconi anaemia v0.7 SAMD9 Louise Daugherty Source London South GLH was added to SAMD9.
Cytopenia - NOT Fanconi anaemia v0.7 TAZ Louise Daugherty Source London South GLH was added to TAZ.
Cytopenia - NOT Fanconi anaemia v0.7 SLC37A4 Louise Daugherty gene: SLC37A4 was added
gene: SLC37A4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: SLC37A4 was set to
Cytopenia - NOT Fanconi anaemia v0.7 HAX1 Louise Daugherty Source London South GLH was added to HAX1.
Cytopenia - NOT Fanconi anaemia v0.7 GFI1 Louise Daugherty Source London South GLH was added to GFI1.
Cytopenia - NOT Fanconi anaemia v0.7 G6PC3 Louise Daugherty Source London South GLH was added to G6PC3.
Cytopenia - NOT Fanconi anaemia v0.7 ELANE Louise Daugherty Source London South GLH was added to ELANE.
Cytopenia - NOT Fanconi anaemia v0.7 CXCR4 Louise Daugherty Source London South GLH was added to CXCR4.
Cytopenia - NOT Fanconi anaemia v0.7 ADA2 Louise Daugherty Source London South GLH was added to ADA2.
Cytopenia - NOT Fanconi anaemia v0.7 ACKR1 Louise Daugherty gene: ACKR1 was added
gene: ACKR1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ACKR1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 WAS Louise Daugherty Source London South GLH was added to WAS.
Cytopenia - NOT Fanconi anaemia v0.7 TUBB1 Louise Daugherty gene: TUBB1 was added
gene: TUBB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: TUBB1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 RBM8A Louise Daugherty gene: RBM8A was added
gene: RBM8A was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: RBM8A was set to
Cytopenia - NOT Fanconi anaemia v0.7 NBEAL2 Louise Daugherty gene: NBEAL2 was added
gene: NBEAL2 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: NBEAL2 was set to
Cytopenia - NOT Fanconi anaemia v0.7 MYH9 Louise Daugherty gene: MYH9 was added
gene: MYH9 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: MYH9 was set to
Cytopenia - NOT Fanconi anaemia v0.7 GP1BA Louise Daugherty gene: GP1BA was added
gene: GP1BA was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: GP1BA was set to
Cytopenia - NOT Fanconi anaemia v0.7 ANKRD26 Louise Daugherty gene: ANKRD26 was added
gene: ANKRD26 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ANKRD26 was set to
Cytopenia - NOT Fanconi anaemia v0.7 RUNX1 Louise Daugherty gene: RUNX1 was added
gene: RUNX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: RUNX1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 GATA2 Louise Daugherty Source London South GLH was added to GATA2.
Cytopenia - NOT Fanconi anaemia v0.7 WRAP53 Louise Daugherty Source London South GLH was added to WRAP53.
Cytopenia - NOT Fanconi anaemia v0.7 TINF2 Louise Daugherty Source London South GLH was added to TINF2.
Cytopenia - NOT Fanconi anaemia v0.7 TERT Louise Daugherty Source London South GLH was added to TERT.
Cytopenia - NOT Fanconi anaemia v0.7 TERC Louise Daugherty Source London South GLH was added to TERC.
Cytopenia - NOT Fanconi anaemia v0.7 SRP72 Louise Daugherty Source London South GLH was added to SRP72.
Cytopenia - NOT Fanconi anaemia v0.7 SMARCAL1 Louise Daugherty gene: SMARCAL1 was added
gene: SMARCAL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: SMARCAL1 was set to
Cytopenia - NOT Fanconi anaemia v0.7 SBDS Louise Daugherty Source London South GLH was added to SBDS.
Cytopenia - NOT Fanconi anaemia v0.7 RTEL1 Louise Daugherty Source London South GLH was added to RTEL1.
Cytopenia - NOT Fanconi anaemia v0.7 RMRP Louise Daugherty Source London South GLH was added to RMRP.
Cytopenia - NOT Fanconi anaemia v0.7 PARN Louise Daugherty gene: PARN was added
gene: PARN was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: PARN was set to
Cytopenia - NOT Fanconi anaemia v0.7 NOP10 Louise Daugherty Source London South GLH was added to NOP10.
Cytopenia - NOT Fanconi anaemia v0.7 NHP2 Louise Daugherty Source London South GLH was added to NHP2.
Cytopenia - NOT Fanconi anaemia v0.7 MPL Louise Daugherty gene: MPL was added
gene: MPL was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: MPL was set to
Cytopenia - NOT Fanconi anaemia v0.7 MASTL Louise Daugherty Source London South GLH was added to MASTL.
Cytopenia - NOT Fanconi anaemia v0.7 LIG4 Louise Daugherty gene: LIG4 was added
gene: LIG4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: LIG4 was set to
Cytopenia - NOT Fanconi anaemia v0.7 HOXA11 Louise Daugherty gene: HOXA11 was added
gene: HOXA11 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: HOXA11 was set to
Cytopenia - NOT Fanconi anaemia v0.7 DKC1 Louise Daugherty Source London South GLH was added to DKC1.
Cytopenia - NOT Fanconi anaemia v0.7 CTC1 Louise Daugherty Source London South GLH was added to CTC1.
Cytopenia - NOT Fanconi anaemia v0.7 ACD Louise Daugherty gene: ACD was added
gene: ACD was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH
Mode of inheritance for gene: ACD was set to
Inherited predisposition to GIST v0.20 NF1 Anna de Burca Classified gene: NF1 as Red List (low evidence)
Inherited predisposition to GIST v0.20 NF1 Anna de Burca Added comment: Comment on list classification: Although NF1 is associated with GIST, it was agreed that the gene should not be included in this panel as it is expected that the referring clinician will be able to exclude Neurofibromatosis type 1 on clinical examination.
Inherited predisposition to GIST v0.20 NF1 Anna de Burca Gene: nf1 has been classified as Red List (Low Evidence).
Thrombophilia with a likely monogenic cause v0.24 TFPI Louise Daugherty Classified gene: TFPI as Amber List (moderate evidence)
Thrombophilia with a likely monogenic cause v0.24 TFPI Louise Daugherty Gene: tfpi has been classified as Amber List (Moderate Evidence).
Thrombophilia with a likely monogenic cause v0.23 TFPI Louise Daugherty Mode of inheritance for gene: TFPI was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.22 PROZ Louise Daugherty Mode of inheritance for gene: PROZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.21 PROZ Louise Daugherty Classified gene: PROZ as Amber List (moderate evidence)
Thrombophilia with a likely monogenic cause v0.21 PROZ Louise Daugherty Gene: proz has been classified as Amber List (Moderate Evidence).
Thrombophilia with a likely monogenic cause v0.20 PROCR Louise Daugherty Mode of inheritance for gene: PROCR was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.19 PROCR Louise Daugherty Classified gene: PROCR as Amber List (moderate evidence)
Thrombophilia with a likely monogenic cause v0.19 PROCR Louise Daugherty Gene: procr has been classified as Amber List (Moderate Evidence).
Thrombophilia with a likely monogenic cause v0.18 PLAT Louise Daugherty Mode of inheritance for gene: PLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.17 PLAT Louise Daugherty Classified gene: PLAT as Green List (high evidence)
Thrombophilia with a likely monogenic cause v0.17 PLAT Louise Daugherty Gene: plat has been classified as Green List (High Evidence).
Thrombophilia with a likely monogenic cause v0.16 F3 Louise Daugherty Phenotypes for gene: F3 were changed from No OMIM number; Tissue factor deficiency (Factor III) to Tissue factor deficiency (Factor III)
Thrombophilia with a likely monogenic cause v0.15 F3 Louise Daugherty Mode of inheritance for gene: F3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.14 F3 Louise Daugherty Mode of inheritance for gene: F3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.13 F3 Louise Daugherty Classified gene: F3 as Amber List (moderate evidence)
Thrombophilia with a likely monogenic cause v0.13 F3 Louise Daugherty Gene: f3 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.18 SERPINE1 Louise Daugherty Classified gene: SERPINE1 as Green List (high evidence)
Bleeding and platelet disorders v0.18 SERPINE1 Louise Daugherty Gene: serpine1 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.17 SERPINE1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.17 F2 Louise Daugherty Classified gene: F2 as Green List (high evidence)
Bleeding and platelet disorders v0.17 F2 Louise Daugherty Gene: f2 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.16 F2 Louise Daugherty Classified gene: F2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.16 F2 Louise Daugherty Gene: f2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.15 SERPINE1 Louise Daugherty Classified gene: SERPINE1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.15 SERPINE1 Louise Daugherty Gene: serpine1 has been classified as Amber List (Moderate Evidence).
Thrombophilia with a likely monogenic cause v0.12 TFPI Louise Daugherty reviewed gene: TFPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.12 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 SERPIND1 Louise Daugherty commented on gene: SERPIND1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 v0.12 SERPINC1 Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 PROZ Louise Daugherty reviewed gene: PROZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.12 PROS1 Louise Daugherty commented on gene: PROS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 (but BIALLELIC mutations cause a more SEVERE disease form), 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 v0.12 PROCR Louise Daugherty reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.12 PROC Louise Daugherty commented on gene: PROC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 (but BIALLELIC mutations cause a more SEVERE disease form), 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 v0.12 PLG Louise Daugherty commented on gene: PLG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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: not submitted; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 PLAT Louise Daugherty reviewed gene: PLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.12 PIGA Louise Daugherty commented on gene: PIGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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: not submitted; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 HRG Louise Daugherty commented on gene: HRG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 v0.12 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 v0.12 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 v0.12 F3 Louise Daugherty reviewed gene: F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thrombophilia with a likely monogenic cause v0.12 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 Factor II deficiency; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.12 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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
Bleeding and platelet disorders v0.14 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; 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: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.14 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; 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: 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 v0.14 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; 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: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; 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: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.14 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; 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: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; 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: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; 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; PMID(s): none submitted
Bleeding and platelet disorders v0.14 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; 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: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; 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, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; 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: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; 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: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.14 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; 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: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.14 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; 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: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; 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: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; 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: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SLC45A2 Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; 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: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; 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: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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? Yes; 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 v0.14 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; 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: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; 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: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PTPRJ Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; 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: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; 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: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; 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: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; 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: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; 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: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; 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: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.14 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; 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: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; 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, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; 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: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; 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: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; 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: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; 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: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; 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: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.14 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; 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: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 KNG1 Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; 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: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.14 KLKB1 Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; 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: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 KDSR Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; 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: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted
Bleeding and platelet disorders v0.14 ITGB3 Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ITGA2B Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ITGA2 Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial 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: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS6 Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; 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: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS5 Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; 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: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS4 Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; 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: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS3 Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; 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: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS1 Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; 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: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; 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: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP9 Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; 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: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP6 Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; 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: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP1BB Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; 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: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP1BA Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; 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: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GNE Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; 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: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 GGCX Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; 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: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GFI1B Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; 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: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; 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: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; 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: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FLNA Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; 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: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 FLI1 Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; 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: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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
Bleeding and platelet disorders v0.14 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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
Bleeding and platelet disorders v0.14 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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 (but BIALLELIC mutations cause a more SEVERE disease form), 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 v0.14 FERMT3 Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; 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: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F9 Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; 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: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F8 Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; 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: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F7 Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; 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: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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
Bleeding and platelet disorders v0.14 F2R Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial 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: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F13B Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; 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: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F13A1 Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; 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: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F12 Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; 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: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F11 Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; 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: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F10 Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; 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: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.14 EPHB2 Louise Daugherty commented on gene: EPHB2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; 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: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ENG Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; 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: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 DTNBP1 Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; 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: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.14 DIAPH1 Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; 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: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 CYCS Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; 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: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.14 CDC42 Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; 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: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; 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: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.14 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; 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: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ARPC1B Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; 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: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.14 AP3D1 Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; 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: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.14 AP3B1 Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; 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: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ANO6 Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; 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: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Provide exceptions to loss-of-function rule for mode of pathogenicity if applicable: Other - please provide details in the comments; Comment: Gain of function variants in 5'UTR.
Bleeding and platelet disorders v0.14 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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
Bleeding and platelet disorders v0.14 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; 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: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ACTN1 Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; 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: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ACTB Louise Daugherty commented on gene: ACTB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; 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: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; 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: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Thrombophilia with a likely monogenic cause v0.11 TFPI Michael Mitchell reviewed gene: TFPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombophilia with a likely monogenic cause v0.11 THBD Michael Mitchell reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.11 SERPINE1 Michael Mitchell 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
Thrombophilia with a likely monogenic cause v0.11 SERPIND1 Michael Mitchell 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 v0.11 SERPINC1 Michael Mitchell reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; 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 v0.11 PROZ Michael Mitchell reviewed gene: PROZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614024 Protein Z deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.11 PROS1 Michael Mitchell 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.11 PROCR Michael Mitchell 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 v0.11 PROC Michael Mitchell 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.11 PLG Michael Mitchell reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v0.11 PLAT Michael Mitchell 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 v0.11 PIGA Michael Mitchell reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Thrombophilia with a likely monogenic cause v0.11 HRG Michael Mitchell 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 v0.11 FGG Michael Mitchell 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, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.11 FGB Michael Mitchell 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, autosomal or pseudoautosomal; Current diagnostic: yes
Thrombophilia with a likely monogenic cause v0.11 FGA Michael Mitchell 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 v0.11 F5 Michael Mitchell 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 v0.11 F3 Michael Mitchell reviewed gene: F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Tissue factor deficiency (Factor III), No OMIM number; 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 v0.11 F2 Michael Mitchell reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; 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 v0.11 ADAMTS13 Michael Mitchell 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
Thrombophilia with a likely monogenic cause v0.10 THBD Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Thrombophilia with a likely monogenic cause v0.10 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Thrombophilia with a likely monogenic cause v0.10 SERPIND1 Louise Daugherty Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1
Thrombophilia with a likely monogenic cause v0.10 SERPINC1 Louise Daugherty Added phenotypes 613118 Thrombophilia due to antithrombin III deficiency for gene: SERPINC1
Thrombophilia with a likely monogenic cause v0.10 PROZ Louise Daugherty Added phenotypes 614024 Protein Z deficiency for gene: PROZ
Thrombophilia with a likely monogenic cause v0.10 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 v0.10 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 v0.10 PLAT Louise Daugherty Added phenotypes 612348 Thrombophilia, due to decreased release of PLAT for gene: PLAT
Thrombophilia with a likely monogenic cause v0.10 HRG Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Thrombophilia with a likely monogenic cause v0.10 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Thrombophilia with a likely monogenic cause v0.10 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Thrombophilia with a likely monogenic cause v0.10 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 v0.10 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 v0.10 F3 Louise Daugherty Added phenotypes No OMIM number; Tissue factor deficiency (Factor III) for gene: F3
Thrombophilia with a likely monogenic cause v0.10 F2 Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
Thrombophilia with a likely monogenic cause v0.10 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Pigmentary skin disorders v0.7 MITF Rebecca Foulger commented on gene: MITF: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2A and WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM, plus Green on the 'Hearing loss' panel with Waardenburg phenotype.
Pigmentary skin disorders v0.7 EDNRB Rebecca Foulger commented on gene: EDNRB: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. EDNRB is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list".
Pigmentary skin disorders v0.7 EDN3 Rebecca Foulger commented on gene: EDN3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation .EDN3 is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list".
Thrombophilia with a likely monogenic cause v0.9 TFPI Louise Daugherty Source NHS GMS was added to TFPI.
Thrombophilia with a likely monogenic cause v0.9 PROZ Louise Daugherty Source NHS GMS was added to PROZ.
Thrombophilia with a likely monogenic cause v0.9 PROCR Louise Daugherty Source NHS GMS was added to PROCR.
Thrombophilia with a likely monogenic cause v0.9 PLAT Louise Daugherty Source NHS GMS was added to PLAT.
Thrombophilia with a likely monogenic cause v0.9 F3 Louise Daugherty Source NHS GMS was added to F3.
Pigmentary skin disorders v0.7 SOX10 Rebecca Foulger commented on gene: SOX10: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2E and WAARDENBURG SYNDROME TYPE 4C, and Green on the 'Hearing loss' panel with Waardenburg phenotypes.
Thrombophilia with a likely monogenic cause v0.8 TFPI Louise Daugherty gene: TFPI was added
gene: TFPI was added to Thrombophilia. Sources: London South GLH
Mode of inheritance for gene: TFPI was set to
Thrombophilia with a likely monogenic cause v0.8 THBD Louise Daugherty Source London South GLH was added to THBD.
Thrombophilia with a likely monogenic cause v0.8 SERPINE1 Louise Daugherty Source London South GLH was added to SERPINE1.
Thrombophilia with a likely monogenic cause v0.8 SERPIND1 Louise Daugherty Source London South GLH was added to SERPIND1.
Thrombophilia with a likely monogenic cause v0.8 SERPINC1 Louise Daugherty Source London South GLH was added to SERPINC1.
Thrombophilia with a likely monogenic cause v0.8 PROZ Louise Daugherty gene: PROZ was added
gene: PROZ was added to Thrombophilia. Sources: London South GLH
Mode of inheritance for gene: PROZ was set to
Thrombophilia with a likely monogenic cause v0.8 PROS1 Louise Daugherty Source London South GLH was added to PROS1.
Thrombophilia with a likely monogenic cause v0.8 PROCR Louise Daugherty gene: PROCR was added
gene: PROCR was added to Thrombophilia. Sources: London South GLH
Mode of inheritance for gene: PROCR was set to
Thrombophilia with a likely monogenic cause v0.8 PROC Louise Daugherty Source London South GLH was added to PROC.
Thrombophilia with a likely monogenic cause v0.8 PLG Louise Daugherty Source London South GLH was added to PLG.
Thrombophilia with a likely monogenic cause v0.8 PLAT Louise Daugherty gene: PLAT was added
gene: PLAT was added to Thrombophilia. Sources: London South GLH
Mode of inheritance for gene: PLAT was set to
Thrombophilia with a likely monogenic cause v0.8 PIGA Louise Daugherty Source London South GLH was added to PIGA.
Thrombophilia with a likely monogenic cause v0.8 HRG Louise Daugherty Source London South GLH was added to HRG.
Thrombophilia with a likely monogenic cause v0.8 FGG Louise Daugherty Source London South GLH was added to FGG.
Thrombophilia with a likely monogenic cause v0.8 FGB Louise Daugherty Source London South GLH was added to FGB.
Thrombophilia with a likely monogenic cause v0.8 FGA Louise Daugherty Source London South GLH was added to FGA.
Thrombophilia with a likely monogenic cause v0.8 F5 Louise Daugherty Source London South GLH was added to F5.
Thrombophilia with a likely monogenic cause v0.8 F3 Louise Daugherty gene: F3 was added
gene: F3 was added to Thrombophilia. Sources: London South GLH
Mode of inheritance for gene: F3 was set to
Thrombophilia with a likely monogenic cause v0.8 F2 Louise Daugherty Source London South GLH was added to F2.
Thrombophilia with a likely monogenic cause v0.8 ADAMTS13 Louise Daugherty Source London South GLH was added to ADAMTS13.
Pigmentary skin disorders v0.7 PAX3 Rebecca Foulger Added comment: Comment on mode of inheritance: MOI is monoallelic (AD) for Waardenburg syndrome, type 1, 193500. MOI is both monoallelic and biallelic (AD, AR) for Waardenburg syndrome, type 3, 148820.
Pigmentary skin disorders v0.7 PAX3 Rebecca Foulger Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.6 PAX3 Rebecca Foulger commented on gene: PAX3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. PAX3 is Green on 'Hearing loss' panel with 'Waardenburg phenotypes, and has a confirmed rating on DD-G2P for WAARDENBURG SYNDROME, TYPE 1.
Bleeding and platelet disorders v0.13 SERPINE1 Louise Daugherty Mode of inheritance for gene: SERPINE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.12 F2 Louise Daugherty Mode of inheritance for gene: F2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.11 SERPINE1 Louise Daugherty Source NHS GMS was added to SERPINE1.
Bleeding and platelet disorders v0.11 F2 Louise Daugherty Source NHS GMS was added to F2.
Bleeding and platelet disorders v0.10 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; 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: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.10 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; 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: 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 v0.10 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; 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: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; 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: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.10 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; 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: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; 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: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; 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; PMID(s): none submitted
Bleeding and platelet disorders v0.10 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; 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: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; 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, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; 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: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; 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: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.10 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; 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: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.10 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; 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: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; 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: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; 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: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SLC45A2 Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; 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: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; 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: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SERPINE1 Louise Daugherty reviewed gene: SERPINE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.10 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South 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? Yes; 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 v0.10 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; 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: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; 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: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PTPRJ Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; 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: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; 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: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; 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: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; 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: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; 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: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.10 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; 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: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.10 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; 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: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; 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, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; 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: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted