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21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	CTNNA3	Ellen McDonagh Source South West GLH was added to CTNNA3. Mode of inheritance for gene CTNNA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	TMEM43	Ellen McDonagh Source South West GLH was added to TMEM43. Mode of inheritance for gene TMEM43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	RYR2	Ellen McDonagh Source South West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	PLN	Ellen McDonagh Source South West GLH was added to PLN. Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	PKP2	Ellen McDonagh Source South West GLH was added to PKP2. Mode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	JUP	Ellen McDonagh Source South West GLH was added to JUP. Mode of inheritance for gene JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	DSP	Ellen McDonagh Source South West GLH was added to DSP. Mode of inheritance for gene DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	DSG2	Ellen McDonagh Source South West GLH was added to DSG2. Mode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	DSC2	Ellen McDonagh Source South West GLH was added to DSC2. Mode of inheritance for gene DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.20	DES	Ellen McDonagh Source South West GLH was added to DES. Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Progressive cardiac conduction disease v0.15	KCNK17	Ellen McDonagh gene: KCNK17 was added gene: KCNK17 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: KCNK17 was set to Unknown
21 Feb 2019	Progressive cardiac conduction disease v0.15	ANK2	Ellen McDonagh gene: ANK2 was added gene: ANK2 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Progressive cardiac conduction disease v0.15	GJA5	Ellen McDonagh gene: GJA5 was added gene: GJA5 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Progressive cardiac conduction disease v0.15	NKX2-5	Ellen McDonagh Source South West GLH was added to NKX2-5. Mode of inheritance for gene NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Progressive cardiac conduction disease v0.15	TBX3	Ellen McDonagh gene: TBX3 was added gene: TBX3 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Progressive cardiac conduction disease v0.15	TBX5	Ellen McDonagh Source South West GLH was added to TBX5. Mode of inheritance for gene TBX5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Progressive cardiac conduction disease v0.15	EMD	Ellen McDonagh gene: EMD was added gene: EMD was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
21 Feb 2019	Progressive cardiac conduction disease v0.15	DES	Ellen McDonagh Source South West GLH was added to DES. Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Progressive cardiac conduction disease v0.15	LMNA	Ellen McDonagh Source South West GLH was added to LMNA.
21 Feb 2019	Progressive cardiac conduction disease v0.15	HCN4	Ellen McDonagh gene: HCN4 was added gene: HCN4 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Progressive cardiac conduction disease v0.15	TRPM4	Ellen McDonagh Source South West GLH was added to TRPM4.
21 Feb 2019	Progressive cardiac conduction disease v0.15	SCN5A	Ellen McDonagh Source South West GLH was added to SCN5A.
21 Feb 2019	Progressive cardiac conduction disease v0.15	SCN1B	Ellen McDonagh Source South West GLH was added to SCN1B. Mode of inheritance for gene SCN1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	SLMAP	Ellen McDonagh Source South West GLH was added to SLMAP. Mode of inheritance for gene SLMAP was changed from to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	SCN2B	Ellen McDonagh Source South West GLH was added to SCN2B. Mode of inheritance for gene SCN2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Red List (low evidence) to No List (delete)
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	RANGRF	Ellen McDonagh Source South West GLH was added to RANGRF. Mode of inheritance for gene RANGRF was changed from to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	PKP2	Ellen McDonagh Source South West GLH was added to PKP2. Mode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	KCNJ8	Ellen McDonagh Source South West GLH was added to KCNJ8. Mode of inheritance for gene KCNJ8 was changed from to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	KCNH2	Ellen McDonagh Source South West GLH was added to KCNH2. Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	KCNE5	Ellen McDonagh Source South West GLH was added to KCNE5. Mode of inheritance for gene KCNE5 was changed from to Unknown Rating Changed from Red List (low evidence) to No List (delete)
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	KCND3	Ellen McDonagh Source South West GLH was added to KCND3. Mode of inheritance for gene KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	DLG1	Ellen McDonagh Source South West GLH was added to DLG1. Mode of inheritance for gene DLG1 was changed from to Unknown Rating Changed from Red List (low evidence) to No List (delete)
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	CAV3	Ellen McDonagh Source South West GLH was added to CAV3. Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	CACNA2D1	Ellen McDonagh Source South West GLH was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	CACNA1C	Ellen McDonagh Source South West GLH was added to CACNA1C. Mode of inheritance for gene CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	ANK2	Ellen McDonagh Source South West GLH was added to ANK2.
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	ABCC9	Ellen McDonagh Source South West GLH was added to ABCC9. Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	TRPM4	Ellen McDonagh Source South West GLH was added to TRPM4. Mode of inheritance for gene TRPM4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	SCN5A	Ellen McDonagh Source South West GLH was added to SCN5A. Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	SCN3B	Ellen McDonagh Source South West GLH was added to SCN3B. Mode of inheritance for gene SCN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	SCN1B	Ellen McDonagh Source South West GLH was added to SCN1B. Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	SCN10A	Ellen McDonagh Source South West GLH was added to SCN10A. Mode of inheritance for gene SCN10A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	KCNE3	Ellen McDonagh Source South West GLH was added to KCNE3. Mode of inheritance for gene KCNE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	HCN4	Ellen McDonagh Source South West GLH was added to HCN4. Mode of inheritance for gene HCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	GPD1L	Ellen McDonagh Source South West GLH was added to GPD1L. Mode of inheritance for gene GPD1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
21 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.23	CACNB2	Ellen McDonagh Source South West GLH was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
21 Feb 2019	Long QT syndrome v1.16	SCN4B	Ellen McDonagh Source South West GLH was added to SCN4B. Mode of inheritance for gene SCN4B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Long QT syndrome v1.16	RYR2	Ellen McDonagh Source South West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Long QT syndrome v1.16	NOS1AP	Ellen McDonagh Source South West GLH was added to NOS1AP. Mode of inheritance for gene NOS1AP was changed from to Unknown
21 Feb 2019	Long QT syndrome v1.16	KCNE3	Ellen McDonagh Source South West GLH was added to KCNE3.
21 Feb 2019	Long QT syndrome v1.16	CAV3	Ellen McDonagh Source South West GLH was added to CAV3.
21 Feb 2019	Long QT syndrome v1.16	CALM3	Ellen McDonagh Source South West GLH was added to CALM3. Mode of inheritance for gene CALM3 was changed from to Unknown
21 Feb 2019	Long QT syndrome v1.16	CALM2	Ellen McDonagh Source South West GLH was added to CALM2.
21 Feb 2019	Long QT syndrome v1.16	CALM1	Ellen McDonagh Source South West GLH was added to CALM1.
21 Feb 2019	Long QT syndrome v1.16	ALG10	Ellen McDonagh Source South West GLH was added to ALG10. Mode of inheritance for gene ALG10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Long QT syndrome v1.16	AKAP9	Ellen McDonagh Source South West GLH was added to AKAP9. Mode of inheritance for gene AKAP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Long QT syndrome v1.16	SNTA1	Ellen McDonagh Source South West GLH was added to SNTA1.
21 Feb 2019	Long QT syndrome v1.16	SCN5A	Ellen McDonagh Source South West GLH was added to SCN5A. Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Long QT syndrome v1.16	KCNQ1	Ellen McDonagh Source South West GLH was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Long QT syndrome v1.16	KCNJ5	Ellen McDonagh Source South West GLH was added to KCNJ5.
21 Feb 2019	Long QT syndrome v1.16	KCNJ2	Ellen McDonagh Source South West GLH was added to KCNJ2.
21 Feb 2019	Long QT syndrome v1.16	KCNH2	Ellen McDonagh Source South West GLH was added to KCNH2. Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Long QT syndrome v1.16	KCNE2	Ellen McDonagh Source South West GLH was added to KCNE2.
21 Feb 2019	Long QT syndrome v1.16	KCNE1	Ellen McDonagh Source South West GLH was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Long QT syndrome v1.16	CACNA1C	Ellen McDonagh Source South West GLH was added to CACNA1C.
21 Feb 2019	Long QT syndrome v1.16	ANK2	Ellen McDonagh Source South West GLH was added to ANK2.
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	TECRL	Ellen McDonagh gene: TECRL was added gene: TECRL was added to Catecholaminergic polymorphic VT. Sources: South West GLH Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	KCNJ2	Ellen McDonagh Source South West GLH was added to KCNJ2.
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	KCNE1	Ellen McDonagh Source South West GLH was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	CALM3	Ellen McDonagh Source South West GLH was added to CALM3. Mode of inheritance for gene CALM3 was changed from to Unknown
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	ANK2	Ellen McDonagh Source South West GLH was added to ANK2. Mode of inheritance for gene ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	TRDN	Ellen McDonagh Source South West GLH was added to TRDN.
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	RYR2	Ellen McDonagh Source South West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	CASQ2	Ellen McDonagh Source South West GLH was added to CASQ2.
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	CALM2	Ellen McDonagh Source South West GLH was added to CALM2. Mode of inheritance for gene CALM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Catecholaminergic polymorphic VT v1.9	CALM1	Ellen McDonagh Source South West GLH was added to CALM1. Mode of inheritance for gene CALM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ZNF469	Ellen McDonagh Source South West GLH was added to ZNF469. Mode of inheritance for gene ZNF469 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	TNXB	Ellen McDonagh Source South West GLH was added to TNXB. Mode of inheritance for gene TNXB was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	SLC39A13	Ellen McDonagh Source South West GLH was added to SLC39A13. Mode of inheritance for gene SLC39A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	MFAP5	Ellen McDonagh Source South West GLH was added to MFAP5. Mode of inheritance for gene MFAP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	LTBP2	Ellen McDonagh Source South West GLH was added to LTBP2. Mode of inheritance for gene LTBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	KCNN1	Ellen McDonagh Source South West GLH was added to KCNN1. Mode of inheritance for gene KCNN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	HNRNPK	Ellen McDonagh Source South West GLH was added to HNRNPK.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FOXE3	Ellen McDonagh Source South West GLH was added to FOXE3. Mode of inheritance for gene FOXE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FKBP14	Ellen McDonagh Source South West GLH was added to FKBP14. Mode of inheritance for gene FKBP14 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FBLN5	Ellen McDonagh Source South West GLH was added to FBLN5.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL9A3	Ellen McDonagh Source South West GLH was added to COL9A3. Mode of inheritance for gene COL9A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL9A2	Ellen McDonagh Source South West GLH was added to COL9A2. Mode of inheritance for gene COL9A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL9A1	Ellen McDonagh Source South West GLH was added to COL9A1. Mode of inheritance for gene COL9A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL4A1	Ellen McDonagh Source South West GLH was added to COL4A1. Mode of inheritance for gene COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL2A1	Ellen McDonagh Source South West GLH was added to COL2A1. Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL11A2	Ellen McDonagh Source South West GLH was added to COL11A2. Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL11A1	Ellen McDonagh Source South West GLH was added to COL11A1. Mode of inheritance for gene COL11A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	CHST14	Ellen McDonagh Source South West GLH was added to CHST14. Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	CBS	Ellen McDonagh Source South West GLH was added to CBS. Mode of inheritance for gene CBS was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	B4GALT7	Ellen McDonagh Source South West GLH was added to B4GALT7. Mode of inheritance for gene B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ATP7A	Ellen McDonagh Source South West GLH was added to ATP7A. Mode of inheritance for gene ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ATP6V0A2	Ellen McDonagh Source South West GLH was added to ATP6V0A2. Mode of inheritance for gene ATP6V0A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ALDH18A1	Ellen McDonagh Source South West GLH was added to ALDH18A1. Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ADAMTS2	Ellen McDonagh Source South West GLH was added to ADAMTS2. Mode of inheritance for gene ADAMTS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ACVR1	Ellen McDonagh Source South West GLH was added to ACVR1. Mode of inheritance for gene ACVR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ABCC6	Ellen McDonagh Source South West GLH was added to ABCC6. Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	PKD2	Ellen McDonagh Source South West GLH was added to PKD2. Mode of inheritance for gene PKD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	PKD1	Ellen McDonagh Source South West GLH was added to PKD1. Mode of inheritance for gene PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	TGFBR2	Ellen McDonagh Source South West GLH was added to TGFBR2. Mode of inheritance for gene TGFBR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	TGFBR1	Ellen McDonagh Source South West GLH was added to TGFBR1. Mode of inheritance for gene TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	TGFB3	Ellen McDonagh Source South West GLH was added to TGFB3.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	TGFB2	Ellen McDonagh Source South West GLH was added to TGFB2.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	SMAD4	Ellen McDonagh Source South West GLH was added to SMAD4.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	SMAD3	Ellen McDonagh Source South West GLH was added to SMAD3. Mode of inheritance for gene SMAD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	SMAD2	Ellen McDonagh Source South West GLH was added to SMAD2. Mode of inheritance for gene SMAD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	SLC2A10	Ellen McDonagh Source South West GLH was added to SLC2A10. Mode of inheritance for gene SLC2A10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	SKI	Ellen McDonagh Source South West GLH was added to SKI.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	PRKG1	Ellen McDonagh Source South West GLH was added to PRKG1.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	PLOD1	Ellen McDonagh Source South West GLH was added to PLOD1.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	NOTCH1	Ellen McDonagh Source South West GLH was added to NOTCH1.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	MYLK	Ellen McDonagh Source South West GLH was added to MYLK. Mode of inheritance for gene MYLK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	MYH11	Ellen McDonagh Source South West GLH was added to MYH11. Mode of inheritance for gene MYH11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	MED12	Ellen McDonagh Source South West GLH was added to MED12.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	LOX	Ellen McDonagh Source South West GLH was added to LOX.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FLNA	Ellen McDonagh Source South West GLH was added to FLNA. Mode of inheritance for gene FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FLCN	Ellen McDonagh Source South West GLH was added to FLCN. Mode of inheritance for gene FLCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FBN2	Ellen McDonagh Source South West GLH was added to FBN2. Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	FBN1	Ellen McDonagh Source South West GLH was added to FBN1. Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ELN	Ellen McDonagh Source South West GLH was added to ELN.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	EFEMP2	Ellen McDonagh Source South West GLH was added to EFEMP2.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL5A2	Ellen McDonagh Source South West GLH was added to COL5A2.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL5A1	Ellen McDonagh Source South West GLH was added to COL5A1.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL3A1	Ellen McDonagh Source South West GLH was added to COL3A1. Mode of inheritance for gene COL3A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL1A2	Ellen McDonagh Source South West GLH was added to COL1A2. Mode of inheritance for gene COL1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	COL1A1	Ellen McDonagh Source South West GLH was added to COL1A1.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	BGN	Ellen McDonagh Source South West GLH was added to BGN. Mode of inheritance for gene BGN was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ACTA2	Ellen McDonagh Source South West GLH was added to ACTA2.
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ABL1	Ellen McDonagh Source South West GLH was added to ABL1. Mode of inheritance for gene ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Green List (high evidence) to Green List (high evidence)
21 Feb 2019	Intellectual disability v2.728	FRMPD4	Louise Daugherty Phenotypes for gene: FRMPD4 were changed from Mental retardation, X-linked 104, 300983 to Mental retardation, X-linked 104, 300983; global developmental delay; intellectual disability
21 Feb 2019	Intellectual disability v2.727	FRMPD4	Louise Daugherty Added comment: Comment on publications: Added PMID: 29267967 from external review, to support this gene being upgraded to Green
21 Feb 2019	Intellectual disability v2.727	FRMPD4	Louise Daugherty Publications for gene: FRMPD4 were set to 26350204; 24896178; 25644381; 20613765; 23871722
21 Feb 2019	Intellectual disability v2.726	FRMPD4	Louise Daugherty Phenotypes for gene: FRMPD4 were changed from Mental retardation, X-linked 104 300983 to Mental retardation, X-linked 104, 300983
21 Feb 2019	Intellectual disability v2.725	FRMPD4	Louise Daugherty Added comment: Comment on mode of inheritance: reviewed MOI in view of external review
21 Feb 2019	Intellectual disability v2.725	FRMPD4	Louise Daugherty Mode of inheritance for gene: FRMPD4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
21 Feb 2019	Early onset or syndromic epilepsy v1.21	ZDHHC9	Deb Pal gene: ZDHHC9 was added gene: ZDHHC9 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 26000327 Phenotypes for gene: ZDHHC9 were set to intellectual disability; epilepsy Penetrance for gene: ZDHHC9 were set to unknown Review for gene: ZDHHC9 was set to GREEN gene: ZDHHC9 was marked as current diagnostic Added comment: Amplexa CHE-114 epilepsy panel Sources: Literature
21 Feb 2019	Intellectual disability v2.724	DOCK6	Louise Daugherty edited their review of gene: DOCK6: Added comment: Changed from Amber to Green. Appropriate phenotype, sufficient cases, external review comment and internal clinical review all support gene-disease association.; Changed rating: GREEN
21 Feb 2019	Intellectual disability v2.724	DOCK6	Louise Daugherty Classified gene: DOCK6 as Green List (high evidence)
21 Feb 2019	Intellectual disability v2.724	DOCK6	Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, external review comment and internal clinical review all support gene-disease association.
21 Feb 2019	Intellectual disability v2.724	DOCK6	Louise Daugherty Gene: dock6 has been classified as Green List (High Evidence).
21 Feb 2019	Intellectual disability v2.723	DOCK6	Louise Daugherty Phenotypes for gene: DOCK6 were changed from Adams-Oliver syndrome 2 614219 to Adams-Oliver syndrome 2, 614219; intellectual disability, developmental delay
21 Feb 2019	Intellectual disability v2.722	DOCK6	Louise Daugherty Tag watchlist was removed from gene: DOCK6.
21 Feb 2019	Early onset or syndromic epilepsy v1.21	SMC1A	Deb Pal reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28677859, 28548707, 28166369, 26752331, 26386245, 26358754; Phenotypes: Rett-like phenotype; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
21 Feb 2019	Early onset or syndromic epilepsy v1.21	SLC35A3	Deb Pal reviewed gene: SLC35A3: Rating: RED; Mode of pathogenicity: None; Publications: 28328131; Phenotypes: epilepsy, arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Early onset or syndromic epilepsy v1.21	SLC35A2	Deb Pal reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30746764, 30584598, 29679388, 27743886, 24115232; Phenotypes: epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
21 Feb 2019	Intellectual disability v2.722	CDK10	Louise Daugherty Classified gene: CDK10 as Green List (high evidence)
21 Feb 2019	Intellectual disability v2.722	CDK10	Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
21 Feb 2019	Intellectual disability v2.722	CDK10	Louise Daugherty Gene: cdk10 has been classified as Green List (High Evidence).
21 Feb 2019	Intellectual disability v2.721	CDK10	Louise Daugherty Mode of inheritance for gene: CDK10 was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Intellectual disability v2.720	CDK10	Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer to support gene-disease association, and upgrading of the gene to Green
21 Feb 2019	Intellectual disability v2.720	CDK10	Louise Daugherty Publications for gene: CDK10 were set to
21 Feb 2019	Intellectual disability v2.719	CDK10	Louise Daugherty Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome, 617694; intellectual disability
21 Feb 2019	Intellectual disability v2.718	CCDC47	Louise Daugherty Classified gene: CCDC47 as Green List (high evidence)
21 Feb 2019	Intellectual disability v2.718	CCDC47	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
21 Feb 2019	Intellectual disability v2.718	CCDC47	Louise Daugherty Gene: ccdc47 has been classified as Green List (High Evidence).
21 Feb 2019	Intellectual disability v2.717	CCDC47	Louise Daugherty commented on gene: CCDC47: Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto el al., 2018)
21 Feb 2019	Intellectual disability v2.717	CCDC47	Louise Daugherty Added comment: Comment on phenotypes: Added OMIM phenotype and MIMid
21 Feb 2019	Intellectual disability v2.717	CCDC47	Louise Daugherty Phenotypes for gene: CCDC47 were changed from Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability to Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability; Trichohepatoneurodevelopmental syndrome, 618268
21 Feb 2019	Intellectual disability v2.716	CACNA1E	Louise Daugherty Classified gene: CACNA1E as Green List (high evidence)
21 Feb 2019	Intellectual disability v2.716	CACNA1E	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
21 Feb 2019	Intellectual disability v2.716	CACNA1E	Louise Daugherty Gene: cacna1e has been classified as Green List (High Evidence).
21 Feb 2019	Early onset or syndromic epilepsy v1.21	PIGQ	Deb Pal reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: None; Publications: 24463883; Phenotypes: epilepsy, Ohtahara syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
21 Feb 2019	Intellectual disability v2.715	CACNA1E	Louise Daugherty Added comment: Comment on publications: added Helbig et al. publication that supports the gene-disease association, and upgrading of the gene to Green
21 Feb 2019	Intellectual disability v2.715	CACNA1E	Louise Daugherty Publications for gene: CACNA1E were set to 29942082
21 Feb 2019	Intellectual disability v2.714	CACNA1E	Louise Daugherty Added comment: Comment on phenotypes: added phenotype info from OMIM and MIMid
21 Feb 2019	Intellectual disability v2.714	CACNA1E	Louise Daugherty Phenotypes for gene: CACNA1E were changed from Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly; Epileptic encephalopathy, early infantile, 69, 618285
21 Feb 2019	Early onset or syndromic epilepsy v1.21	NPRL2	Deb Pal reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30093711; Phenotypes: epilepsy, intellectual disability, focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
21 Feb 2019	Early onset or syndromic epilepsy v1.21	KCNT2	Deb Pal gene: KCNT2 was added gene: KCNT2 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNT2 were set to 29740868; 29069600 Phenotypes for gene: KCNT2 were set to epilepsy Penetrance for gene: KCNT2 were set to unknown Review for gene: KCNT2 was set to GREEN gene: KCNT2 was marked as current diagnostic Added comment: Amplexa CHE-114 epilepsy panel Sources: Expert list
21 Feb 2019	Early onset or syndromic epilepsy v1.21	KCNMA1	Deb Pal reviewed gene: KCNMA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2019	Intellectual disability v2.713	BCL11B	Louise Daugherty Classified gene: BCL11B as Green List (high evidence)
21 Feb 2019	Intellectual disability v2.713	BCL11B	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
21 Feb 2019	Intellectual disability v2.713	BCL11B	Louise Daugherty Gene: bcl11b has been classified as Green List (High Evidence).
21 Feb 2019	Early onset or syndromic epilepsy v1.21	KCNH5	Deb Pal gene: KCNH5 was added gene: KCNH5 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to epilepsy Penetrance for gene: KCNH5 were set to unknown Review for gene: KCNH5 was set to RED gene: KCNH5 was marked as current diagnostic Added comment: Amplexa CHE-114 epilepsy panel Sources: Expert list
21 Feb 2019	Early onset or syndromic epilepsy v1.21	KCND2	Deb Pal gene: KCND2 was added gene: KCND2 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCND2 were set to 24501278 Phenotypes for gene: KCND2 were set to autism; epilepsy Penetrance for gene: KCND2 were set to unknown Review for gene: KCND2 was set to RED gene: KCND2 was marked as current diagnostic Added comment: Amplexa CHE-114 epilepsy panel Sources: Expert list
21 Feb 2019	Intellectual disability v2.712	BCL11B	Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes from OMIM and MIMid that indicate relevance to inclusion on the intellectual disability panel
21 Feb 2019	Intellectual disability v2.712	BCL11B	Louise Daugherty Phenotypes for gene: BCL11B were changed from Intellectual disability to Intellectual disability; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092
21 Feb 2019	Intellectual disability v2.711	ATP8A2	Louise Daugherty Classified gene: ATP8A2 as Green List (high evidence)
21 Feb 2019	Intellectual disability v2.711	ATP8A2	Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
21 Feb 2019	Intellectual disability v2.711	ATP8A2	Louise Daugherty Gene: atp8a2 has been classified as Green List (High Evidence).
21 Feb 2019	Intellectual disability v2.710	ATP8A2	Louise Daugherty Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268; intellectual disability
21 Feb 2019	Intellectual disability v2.709	ATP8A2	Louise Daugherty Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
21 Feb 2019	Intellectual disability v2.708	ATP8A2	Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
21 Feb 2019	Intellectual disability v2.708	ATP8A2	Louise Daugherty Publications for gene: ATP8A2 were set to 22892528
20 Feb 2019	Intellectual disability v2.707	ASNS	Louise Daugherty Publications for gene: ASNS were set to 24139043; 25227173; 30234940; 27743885; 29375865
20 Feb 2019	Intellectual disability v2.706	ASNS	Louise Daugherty Classified gene: ASNS as Green List (high evidence)
20 Feb 2019	Intellectual disability v2.706	ASNS	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green. From PMID: 29375865 (2018) A. Abhyankar et al. summarised Ruzzo et al. (PMID:24139043) studied nine children from four families presenting with similar phenotypes and reported two missense mutations‐c.1084T>G (p.F362V; NM_183356) and c.1648C>T (p.R550C; NM_183356) in the asparagine synthetase domain that dramatically reduce ASNS protein abundance. The authors concluded that accumulation of aspartate/glutamate secondary to ASNS depletion in the brain resulted in the neurologic impairment. One of the two mutations reported in that study, c.1084T>G (p.F362V; NM_183356), is four residues upstream of NP_001664.3:p.Gly366Glu seen in our patient. HEK293 cells expressing c.1084T>G (p.F362V; NM_183356) mutant allele showed dramatic reduction in protein abundance. Additionally, Ruzzo et al. reported a hypomorphic ASNS mouse knockout with structural brain abnormalities and deficits in learning/memory. Subsequently, eight more cases of ASNSD have been reported in the literature PMID: 2566342,27422383, 27469131, 27743885.
20 Feb 2019	Intellectual disability v2.706	ASNS	Louise Daugherty Gene: asns has been classified as Green List (High Evidence).
20 Feb 2019	Intellectual disability v2.705	ASNS	Louise Daugherty commented on gene: ASNS: Comment on publications: Added GeneReview PMID: 30234940 (2018) for Asparagine Synthetase Deficiency and PMID:27743885 (2017) first two cases (related) Japanese patients with ASNS deficiency with developmental delay and PMID: 29375865 (2017) reports two novel compound heterozygous missense variants in asparagine synthetase gene as the likely cause of fatal asparagine synthetase deficiency in a single neonate case.
20 Feb 2019	Intellectual disability v2.705	ASNS	Louise Daugherty Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574; congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia to Asparagine synthetase deficiency, 615574; congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures
20 Feb 2019	Intellectual disability v2.704	ASNS	Louise Daugherty Added comment: Comment on publications: Added GeneReview PMID: 30234940 (2018) for Asparagine Synthetase Deficiency and PMID:27743885 (2017) first two cases (related) Japanese patients with ASNS deficiency with developmental delay
20 Feb 2019	Intellectual disability v2.704	ASNS	Louise Daugherty Publications for gene: ASNS were set to 24139043; 25227173
20 Feb 2019	Intellectual disability v2.703	ASNS	Louise Daugherty Added comment: Comment on phenotypes: added phenotypes to indicate relevance to panel
20 Feb 2019	Intellectual disability v2.703	ASNS	Louise Daugherty Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 to Asparagine synthetase deficiency, 615574; congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia
20 Feb 2019	Intellectual disability v2.702	ARL13B	Louise Daugherty Added comment: Comment on phenotypes: Added
20 Feb 2019	Intellectual disability v2.702	ARL13B	Louise Daugherty Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291 to Joubert syndrome 8, 612291; Intellectual disability
20 Feb 2019	Intellectual disability v2.701	ARL13B	Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support Green rating
20 Feb 2019	Intellectual disability v2.701	ARL13B	Louise Daugherty Publications for gene: ARL13B were set to 18674751; 25138100
20 Feb 2019	Intellectual disability v2.700	AIMP2	Louise Daugherty Phenotypes for gene: AIMP2 were changed from Leukodystrophy, hypomyelinating, 17, 618006; neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis to Leukodystrophy, hypomyelinating, 17, 618006; neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
20 Feb 2019	Early onset or syndromic epilepsy v1.21	AIMP2	Louise Daugherty Classified gene: AIMP2 as Amber List (moderate evidence)
20 Feb 2019	Early onset or syndromic epilepsy v1.21	AIMP2	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene currently as Amber
20 Feb 2019	Early onset or syndromic epilepsy v1.21	AIMP2	Louise Daugherty Gene: aimp2 has been classified as Amber List (Moderate Evidence).
20 Feb 2019	Intellectual disability v2.699	AIMP2	Louise Daugherty Classified gene: AIMP2 as Amber List (moderate evidence)
20 Feb 2019	Intellectual disability v2.699	AIMP2	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene currently as Amber
20 Feb 2019	Intellectual disability v2.699	AIMP2	Louise Daugherty Gene: aimp2 has been classified as Amber List (Moderate Evidence).
20 Feb 2019	Intellectual disability v2.698	AIMP2	Louise Daugherty Phenotypes for gene: AIMP2 were changed from Leukodystrophy, hypomyelinating, 17 (MIM 618006) to Leukodystrophy, hypomyelinating, 17, 618006; neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
20 Feb 2019	Early onset or syndromic epilepsy v1.20	AIMP2	Louise Daugherty Phenotypes for gene: AIMP2 were changed from Leukodystrophy, hypomyelinating, 17 (MIM 618006) to Leukodystrophy, hypomyelinating, 17, 618006; neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
20 Feb 2019	Intellectual disability v2.697	AGO1	Louise Daugherty Classified gene: AGO1 as Amber List (moderate evidence)
20 Feb 2019	Intellectual disability v2.697	AGO1	Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber based on current information in the literature and external expert review. There is not enough evidence to support gene-disease association rating of this gene to Green.
20 Feb 2019	Intellectual disability v2.697	AGO1	Louise Daugherty Gene: ago1 has been classified as Amber List (Moderate Evidence).
20 Feb 2019	Intellectual disability v2.696	AGO1	Louise Daugherty Tag missense tag was added to gene: AGO1.
20 Feb 2019	Intellectual disability v2.696	AGO1	Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the ID panel
20 Feb 2019	Intellectual disability v2.696	AGO1	Louise Daugherty Phenotypes for gene: AGO1 were changed from to Generalized hypotonia; Global developmental delay; Intellectual disability; Autism
20 Feb 2019	Intellectual disability v2.695	AGO1	Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene. Also added PMID: 29726122 (2018) that reports a novel 2.3 Mb, de novo, 1p34.3p34.2 deletion in a patient with who has a history of global developmental delay, mild intellectual disability, delayed bone age, bilateral vesicoureteral reflux, vocal cord paralysis, right aberrant subclavian artery, kyphoscoliosis, bilateral metatarsus adductus, and valgus knee deformity. This adds to the evolving genetic literature that haploinsufficiency of this region and genes other than AGO1, AGO3, GRIK3, SLC2A1, and RIMS3 may lead to the neurocognitive delays
20 Feb 2019	Intellectual disability v2.695	AGO1	Louise Daugherty Publications for gene: AGO1 were set to 26350204
20 Feb 2019	Intellectual disability v2.694	NFIB	Ivone Leong Classified gene: NFIB as Green List (high evidence)
20 Feb 2019	Intellectual disability v2.694	NFIB	Ivone Leong Added comment: Comment on list classification: NFIB has been given a green gene status based on the evidence provided by Konstantinos Varvagiannis. NFIB is associated with phenotypes in OMIM and Gene2Phenotype.
20 Feb 2019	Intellectual disability v2.694	NFIB	Ivone Leong Gene: nfib has been classified as Green List (High Evidence).
20 Feb 2019	Intellectual disability v2.693	AGO1	Louise Daugherty commented on gene: AGO1: AGO1 previous HGNC gene symbol was EIF2C1.
20 Feb 2019	Intellectual disability v2.693	AGO1	Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI- agreed with external reviwer that x linked is not appropriate for this gene and was an error
20 Feb 2019	Intellectual disability v2.693	AGO1	Louise Daugherty Mode of inheritance for gene: AGO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2019	Intellectual disability v2.692	ADAT3	Louise Daugherty Classified gene: ADAT3 as Green List (high evidence)
20 Feb 2019	Intellectual disability v2.692	ADAT3	Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
20 Feb 2019	Intellectual disability v2.692	ADAT3	Louise Daugherty Gene: adat3 has been classified as Green List (High Evidence).
20 Feb 2019	Intellectual disability v2.691	ADAT3	Louise Daugherty Phenotypes for gene: ADAT3 were changed from # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 to Mental retardation, autosomal recessive 36, 615286; MRT36
20 Feb 2019	Intellectual disability v2.690	NFIB	Ivone Leong Phenotypes for gene: NFIB were changed from Global developmental delay; Intellectual disability; Macrocephaly to Global developmental delay; Intellectual disability; Macrocephaly; Macrocephaly, acquired, with impaired intellectual development, 618286
20 Feb 2019	Intellectual disability v2.689	NECAP1	Ivone Leong Classified gene: NECAP1 as Amber List (moderate evidence)
20 Feb 2019	Intellectual disability v2.689	NECAP1	Ivone Leong Added comment: Comment on list classification: NECAP1 has been given an amber gene rating based on the evidence provided by Konstantinos Varvagiannis. As patients from the cases described in PMID: 24399846, 30525121 are from Saudi Arabia and have the same variant, these are counted as a single piece of evidence. Therefore, there are not enough evidence to promote this gene to a green rating at this stage.
20 Feb 2019	Intellectual disability v2.689	NECAP1	Ivone Leong Gene: necap1 has been classified as Amber List (Moderate Evidence).
20 Feb 2019	Intellectual disability v2.688	ABAT	Louise Daugherty Phenotypes for gene: ABAT were changed from GABA-transaminase deficiency, 613163 to GABA-transaminase deficiency, 613163; developmental delay
20 Feb 2019	Intellectual disability v2.687	ABAT	Louise Daugherty Classified gene: ABAT as Amber List (moderate evidence)
20 Feb 2019	Intellectual disability v2.687	ABAT	Louise Daugherty Added comment: Comment on list classification: Rated gene as Amber based on current information in the literature and external expert review there is not enough evidence to support gene-disease association rating of this gene to Green.
20 Feb 2019	Intellectual disability v2.687	ABAT	Louise Daugherty Gene: abat has been classified as Amber List (Moderate Evidence).
20 Feb 2019	Intellectual disability v2.686	ABAT	Louise Daugherty Publications for gene: ABAT were set to 27596361; 28411234
20 Feb 2019	Intellectual disability v2.685	ABAT	Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
20 Feb 2019	Intellectual disability v2.685	ABAT	Louise Daugherty Publications for gene: ABAT were set to 27596361
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	SCN3B	Ellen McDonagh edited their review of gene: SCN3B: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10160; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	SCN2B	Ellen McDonagh reviewed gene: SCN2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome 1, MONDO_0011001; Mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	SCN1B	Ellen McDonagh edited their review of gene: SCN1B: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10158; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	SCN10A	Ellen McDonagh edited their review of gene: SCN10A: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10161; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	PKP2	Ellen McDonagh edited their review of gene: PKP2: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10156; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	KCNJ8	Ellen McDonagh edited their review of gene: KCNJ8: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10155; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	KCND3	Ellen McDonagh edited their review of gene: KCND3: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10151; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	HCN4	Ellen McDonagh edited their review of gene: HCN4: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10150; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	GPD1L	Ellen McDonagh edited their review of gene: GPD1L: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10149; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	CACNB2	Ellen McDonagh edited their review of gene: CACNB2: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10148; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	CACNA2D1	Ellen McDonagh edited their review of gene: CACNA2D1: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10147; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	TRPM4	Ellen McDonagh edited their review of gene: TRPM4: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10164; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	SLMAP	Ellen McDonagh reviewed gene: SLMAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	RANGRF	Ellen McDonagh edited their review of gene: RANGRF: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10157; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	KCNH2	Ellen McDonagh reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	KCNE5	Ellen McDonagh reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	KCNE3	Ellen McDonagh edited their review of gene: KCNE3: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10152; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	CACNA1C	Ellen McDonagh edited their review of gene: CACNA1C: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10146; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	ANK2	Ellen McDonagh reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.22	SCN5A	Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was given a validity classification of Definitive by the ClinGen validity curation group and is reflected by providing a Green review here.The gene-disease summary was downloaded on 20th Feb 2019. For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10165; Changed rating: GREEN; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Definitive
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	TRPM4	Ellen McDonagh reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21887725, 23382873; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Progressive cardiac conduction disease v0.14	PRKAG2	Ellen McDonagh reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Progressive cardiac conduction disease v0.14	NKX2-5	Ellen McDonagh reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Progressive cardiac conduction disease v0.14	TBX5	Ellen McDonagh reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Progressive cardiac conduction disease v0.14	LMNA	Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Progressive cardiac conduction disease v0.14	TRPM4	Ellen McDonagh edited their review of gene: TRPM4: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Progressive cardiac conduction disease v0.14	SCN5A	Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Progressive cardiac conduction disease v0.14	SCN1B	Ellen McDonagh reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	DCHS1	Ellen McDonagh reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	ADAMTS3	Ellen McDonagh reviewed gene: ADAMTS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	VEGFC	Ellen McDonagh reviewed gene: VEGFC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	SOX18	Ellen McDonagh reviewed gene: SOX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	PTPN14	Ellen McDonagh reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	PIEZO1	Ellen McDonagh reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	KIF11	Ellen McDonagh reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	GJC2	Ellen McDonagh reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	GJA1	Ellen McDonagh reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	GATA2	Ellen McDonagh reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	FOXC2	Ellen McDonagh reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	FLT4	Ellen McDonagh reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	FAT4	Ellen McDonagh reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	EPHB4	Ellen McDonagh reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Primary lymphoedema v1.35	CCBE1	Ellen McDonagh reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	RBM20	Ellen McDonagh reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	TTN	Ellen McDonagh reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	TGFB3	Ellen McDonagh reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	SCN5A	Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	LMNA	Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	TMEM43	Ellen McDonagh reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	RYR2	Ellen McDonagh reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	PLN	Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	PKP2	Ellen McDonagh reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	JUP	Ellen McDonagh reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	DSP	Ellen McDonagh reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	DSG2	Ellen McDonagh reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	DSC2	Ellen McDonagh reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.19	DES	Ellen McDonagh reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	GATAD1	Ellen McDonagh edited their review of gene: GATAD1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TBX20	Ellen McDonagh reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	PRDM16	Ellen McDonagh reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	PKP2	Ellen McDonagh reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	LAMP2	Ellen McDonagh reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	JUP	Ellen McDonagh reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	DSG2	Ellen McDonagh reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	DSC2	Ellen McDonagh reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	MYPN	Ellen McDonagh reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	CRYAB	Ellen McDonagh edited their review of gene: CRYAB: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	ANKRD1	Ellen McDonagh edited their review of gene: ANKRD1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	VCL	Ellen McDonagh reviewed gene: VCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TTN	Ellen McDonagh reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TPM1	Ellen McDonagh reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TNNT2	Ellen McDonagh reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TNNI3	Ellen McDonagh reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TNNC1	Ellen McDonagh reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	TCAP	Ellen McDonagh reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	SGCD	Ellen McDonagh reviewed gene: SGCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	SCN5A	Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	RBM20	Ellen McDonagh reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	PLN	Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	NEXN	Ellen McDonagh reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	MYH7	Ellen McDonagh reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	MYH6	Ellen McDonagh reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	MYBPC3	Ellen McDonagh edited their review of gene: MYBPC3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	LMNA	Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	LDB3	Ellen McDonagh reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	FKTN	Ellen McDonagh reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	EYA4	Ellen McDonagh reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	DSP	Ellen McDonagh reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	DMD	Ellen McDonagh reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	DES	Ellen McDonagh reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	CSRP3	Ellen McDonagh reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	BAG3	Ellen McDonagh reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	ACTN2	Ellen McDonagh reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	ACTC1	Ellen McDonagh reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.46	ABCC9	Ellen McDonagh reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	TTR	Ellen McDonagh edited their review of gene: TTR: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	TCAP	Ellen McDonagh reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYOZ2	Ellen McDonagh reviewed gene: MYOZ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	LDB3	Ellen McDonagh reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	GAA	Ellen McDonagh reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	CRYAB	Ellen McDonagh reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	CAV3	Ellen McDonagh reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	ANKRD1	Ellen McDonagh reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	NEXN	Ellen McDonagh reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYPN	Ellen McDonagh reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYLK2	Ellen McDonagh reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	JPH2	Ellen McDonagh edited their review of gene: JPH2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	ACTN2	Ellen McDonagh reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	TPM1	Ellen McDonagh reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	TNNT2	Ellen McDonagh reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	TNNI3	Ellen McDonagh reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	TNNC1	Ellen McDonagh reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	PRKAG2	Ellen McDonagh reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	PLN	Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYL3	Ellen McDonagh reviewed gene: MYL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYL2	Ellen McDonagh reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYH7	Ellen McDonagh reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYH6	Ellen McDonagh reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYBPC3	Ellen McDonagh reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	LAMP2	Ellen McDonagh reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	GLA	Ellen McDonagh reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	FHL1	Ellen McDonagh reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	CSRP3	Ellen McDonagh reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	ACTC1	Ellen McDonagh reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	CACNB2	Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	CACNA2D1	Ellen McDonagh reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	SLC22A5	Ellen McDonagh reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	KCNQ1	Ellen McDonagh reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	KCNJ2	Ellen McDonagh reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	KCNH2	Ellen McDonagh reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Short QT syndrome v1.6	CACNA1C	Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Catecholaminergic polymorphic VT v1.8	CALM3	Ellen McDonagh edited their review of gene: CALM3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Catecholaminergic polymorphic VT v1.8	TRDN	Ellen McDonagh edited their review of gene: TRDN: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Catecholaminergic polymorphic VT v1.8	RYR2	Ellen McDonagh edited their review of gene: RYR2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Catecholaminergic polymorphic VT v1.8	CASQ2	Ellen McDonagh edited their review of gene: CASQ2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Catecholaminergic polymorphic VT v1.8	CALM2	Ellen McDonagh edited their review of gene: CALM2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Catecholaminergic polymorphic VT v1.8	CALM1	Ellen McDonagh edited their review of gene: CALM1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	RANGRF	Ellen McDonagh reviewed gene: RANGRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	PKP2	Ellen McDonagh edited their review of gene: PKP2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	KCNJ8	Ellen McDonagh reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	KCND3	Ellen McDonagh reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	CACNA2D1	Ellen McDonagh reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	CACNA1C	Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	SCN5A	Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	SCN3B	Ellen McDonagh reviewed gene: SCN3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	SCN1B	Ellen McDonagh reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	SCN10A	Ellen McDonagh reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	KCNE3	Ellen McDonagh reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	HCN4	Ellen McDonagh reviewed gene: HCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	GPD1L	Ellen McDonagh reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.21	CACNB2	Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Long QT syndrome v1.15	SCN4B	Ellen McDonagh edited their review of gene: SCN4B: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	RYR2	Ellen McDonagh edited their review of gene: RYR2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	CAV3	Ellen McDonagh edited their review of gene: CAV3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	CALM1	Ellen McDonagh edited their review of gene: CALM1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	SNTA1	Ellen McDonagh edited their review of gene: SNTA1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	SCN5A	Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	KCNQ1	Ellen McDonagh edited their review of gene: KCNQ1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	KCNJ5	Ellen McDonagh edited their review of gene: KCNJ5: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	KCNJ2	Ellen McDonagh edited their review of gene: KCNJ2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	KCNH2	Ellen McDonagh edited their review of gene: KCNH2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	KCNE2	Ellen McDonagh edited their review of gene: KCNE2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	KCNE1	Ellen McDonagh edited their review of gene: KCNE1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	CACNA1C	Ellen McDonagh edited their review of gene: CACNA1C: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Long QT syndrome v1.15	ANK2	Ellen McDonagh edited their review of gene: ANK2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	SMAD6	Ellen McDonagh reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	MYLK2	Ellen McDonagh reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	MAT2A	Ellen McDonagh reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	EMILIN1	Ellen McDonagh reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	MFAP5	Ellen McDonagh reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	FOXE3	Ellen McDonagh edited their review of gene: FOXE3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	PLOD1	Ellen McDonagh reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	TGFBR2	Ellen McDonagh edited their review of gene: TGFBR2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	TGFBR1	Ellen McDonagh edited their review of gene: TGFBR1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	TGFB3	Ellen McDonagh edited their review of gene: TGFB3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	TGFB2	Ellen McDonagh edited their review of gene: TGFB2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	SMAD4	Ellen McDonagh edited their review of gene: SMAD4: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	SMAD3	Ellen McDonagh edited their review of gene: SMAD3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	SMAD2	Ellen McDonagh reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	SLC2A10	Ellen McDonagh edited their review of gene: SLC2A10: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	SKI	Ellen McDonagh edited their review of gene: SKI: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	PRKG1	Ellen McDonagh edited their review of gene: PRKG1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	NOTCH1	Ellen McDonagh edited their review of gene: NOTCH1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	MYLK	Ellen McDonagh edited their review of gene: MYLK: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	MYH11	Ellen McDonagh edited their review of gene: MYH11: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	MED12	Ellen McDonagh edited their review of gene: MED12: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	LOX	Ellen McDonagh reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	FLNA	Ellen McDonagh edited their review of gene: FLNA: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	FLCN	Ellen McDonagh reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	FBN2	Ellen McDonagh edited their review of gene: FBN2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	FBN1	Ellen McDonagh edited their review of gene: FBN1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	ELN	Ellen McDonagh edited their review of gene: ELN: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	EFEMP2	Ellen McDonagh edited their review of gene: EFEMP2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	COL5A2	Ellen McDonagh edited their review of gene: COL5A2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	COL5A1	Ellen McDonagh edited their review of gene: COL5A1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	COL3A1	Ellen McDonagh edited their review of gene: COL3A1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	COL1A2	Ellen McDonagh edited their review of gene: COL1A2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	COL1A1	Ellen McDonagh edited their review of gene: COL1A1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	BGN	Ellen McDonagh reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.86	ACTA2	Ellen McDonagh edited their review of gene: ACTA2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
20 Feb 2019	Progressive cardiac conduction disease v0.13	PRKAG2	Ellen McDonagh Source London South GLH was added to PRKAG2.
20 Feb 2019	Progressive cardiac conduction disease v0.13	NKX2-5	Ellen McDonagh gene: NKX2-5 was added gene: NKX2-5 was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: NKX2-5 was set to
20 Feb 2019	Progressive cardiac conduction disease v0.13	TBX5	Ellen McDonagh gene: TBX5 was added gene: TBX5 was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: TBX5 was set to
20 Feb 2019	Progressive cardiac conduction disease v0.13	LMNA	Ellen McDonagh Source London South GLH was added to LMNA.
20 Feb 2019	Progressive cardiac conduction disease v0.13	TRPM4	Ellen McDonagh Source London South GLH was added to TRPM4.
20 Feb 2019	Progressive cardiac conduction disease v0.13	SCN5A	Ellen McDonagh Source London South GLH was added to SCN5A.
20 Feb 2019	Progressive cardiac conduction disease v0.13	SCN1B	Ellen McDonagh gene: SCN1B was added gene: SCN1B was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: SCN1B was set to
20 Feb 2019	Primary lymphoedema v1.34	DCHS1	Ellen McDonagh Source London South GLH was added to DCHS1.
20 Feb 2019	Primary lymphoedema v1.34	ADAMTS3	Ellen McDonagh Source London South GLH was added to ADAMTS3.
20 Feb 2019	Primary lymphoedema v1.34	VEGFC	Ellen McDonagh Source London South GLH was added to VEGFC. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	SOX18	Ellen McDonagh Source London South GLH was added to SOX18. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	PTPN14	Ellen McDonagh Source London South GLH was added to PTPN14. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	PIEZO1	Ellen McDonagh Source London South GLH was added to PIEZO1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	KIF11	Ellen McDonagh Source London South GLH was added to KIF11. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	GJC2	Ellen McDonagh Source London South GLH was added to GJC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	GJA1	Ellen McDonagh Source London South GLH was added to GJA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	GATA2	Ellen McDonagh Source London South GLH was added to GATA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	FOXC2	Ellen McDonagh Source London South GLH was added to FOXC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	FLT4	Ellen McDonagh Source London South GLH was added to FLT4. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	FAT4	Ellen McDonagh Source London South GLH was added to FAT4. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	EPHB4	Ellen McDonagh Source London South GLH was added to EPHB4. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Primary lymphoedema v1.34	CCBE1	Ellen McDonagh Source London South GLH was added to CCBE1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	RBM20	Ellen McDonagh gene: RBM20 was added gene: RBM20 was added to Arrhythmogenic cardiomyopathy. Sources: London South GLH Mode of inheritance for gene: RBM20 was set to
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	TTN	Ellen McDonagh Source London South GLH was added to TTN.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	TGFB3	Ellen McDonagh Source London South GLH was added to TGFB3.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	SCN5A	Ellen McDonagh Source London South GLH was added to SCN5A.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	LMNA	Ellen McDonagh Source London South GLH was added to LMNA.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	TMEM43	Ellen McDonagh Source London South GLH was added to TMEM43.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	RYR2	Ellen McDonagh Source London South GLH was added to RYR2.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	PLN	Ellen McDonagh Source London South GLH was added to PLN.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	PKP2	Ellen McDonagh Source London South GLH was added to PKP2.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	JUP	Ellen McDonagh Source London South GLH was added to JUP.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	DSP	Ellen McDonagh Source London South GLH was added to DSP.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	DSG2	Ellen McDonagh Source London South GLH was added to DSG2.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	DSC2	Ellen McDonagh Source London South GLH was added to DSC2.
20 Feb 2019	Arrhythmogenic right ventricular cardiomyopathy v1.18	DES	Ellen McDonagh Source London South GLH was added to DES. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	GATAD1	Ellen McDonagh Source London South GLH was added to GATAD1.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TBX20	Ellen McDonagh gene: TBX20 was added gene: TBX20 was added to Dilated cardiomyopathy - teen and adult. Sources: London South GLH Mode of inheritance for gene: TBX20 was set to
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	PRDM16	Ellen McDonagh Source London South GLH was added to PRDM16.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	PKP2	Ellen McDonagh Source London South GLH was added to PKP2.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	LAMP2	Ellen McDonagh Source London South GLH was added to LAMP2.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	JUP	Ellen McDonagh Source London South GLH was added to JUP.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	DSG2	Ellen McDonagh Source London South GLH was added to DSG2.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	DSC2	Ellen McDonagh Source London South GLH was added to DSC2.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	MYPN	Ellen McDonagh Source London South GLH was added to MYPN.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	CRYAB	Ellen McDonagh Source London South GLH was added to CRYAB.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	ANKRD1	Ellen McDonagh Source London South GLH was added to ANKRD1.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	VCL	Ellen McDonagh Source London South GLH was added to VCL.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TTN	Ellen McDonagh Source London South GLH was added to TTN.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TPM1	Ellen McDonagh Source London South GLH was added to TPM1.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TNNT2	Ellen McDonagh Source London South GLH was added to TNNT2.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TNNI3	Ellen McDonagh Source London South GLH was added to TNNI3.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TNNC1	Ellen McDonagh Source London South GLH was added to TNNC1.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	TCAP	Ellen McDonagh Source London South GLH was added to TCAP.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	SGCD	Ellen McDonagh Source London South GLH was added to SGCD.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	SCN5A	Ellen McDonagh Source London South GLH was added to SCN5A.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	RBM20	Ellen McDonagh Source London South GLH was added to RBM20.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	PLN	Ellen McDonagh Source London South GLH was added to PLN.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	NEXN	Ellen McDonagh Source London South GLH was added to NEXN.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	MYH7	Ellen McDonagh Source London South GLH was added to MYH7.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	MYH6	Ellen McDonagh Source London South GLH was added to MYH6.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	MYBPC3	Ellen McDonagh Source London South GLH was added to MYBPC3.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	LMNA	Ellen McDonagh Source London South GLH was added to LMNA.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	LDB3	Ellen McDonagh Source London South GLH was added to LDB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	FKTN	Ellen McDonagh Source London South GLH was added to FKTN.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	EYA4	Ellen McDonagh Source London South GLH was added to EYA4.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	DSP	Ellen McDonagh Source London South GLH was added to DSP. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	DMD	Ellen McDonagh Source London South GLH was added to DMD. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	DES	Ellen McDonagh Source London South GLH was added to DES.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	CSRP3	Ellen McDonagh Source London South GLH was added to CSRP3.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	BAG3	Ellen McDonagh Source London South GLH was added to BAG3. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	ACTN2	Ellen McDonagh Source London South GLH was added to ACTN2.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	ACTC1	Ellen McDonagh Source London South GLH was added to ACTC1.
20 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.45	ABCC9	Ellen McDonagh Source London South GLH was added to ABCC9.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	TTR	Ellen McDonagh Source London South GLH was added to TTR. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	TCAP	Ellen McDonagh Source London South GLH was added to TCAP.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYOZ2	Ellen McDonagh Source London South GLH was added to MYOZ2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	LDB3	Ellen McDonagh Source London South GLH was added to LDB3.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	GAA	Ellen McDonagh Source London South GLH was added to GAA.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	CRYAB	Ellen McDonagh Source London South GLH was added to CRYAB.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	CAV3	Ellen McDonagh Source London South GLH was added to CAV3.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	ANKRD1	Ellen McDonagh Source London South GLH was added to ANKRD1.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	NEXN	Ellen McDonagh Source London South GLH was added to NEXN.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYPN	Ellen McDonagh Source London South GLH was added to MYPN.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYLK2	Ellen McDonagh Source London South GLH was added to MYLK2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	JPH2	Ellen McDonagh Source London South GLH was added to JPH2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	ACTN2	Ellen McDonagh Source London South GLH was added to ACTN2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	TPM1	Ellen McDonagh Source London South GLH was added to TPM1.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	TNNT2	Ellen McDonagh Source London South GLH was added to TNNT2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	TNNI3	Ellen McDonagh Source London South GLH was added to TNNI3.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	TNNC1	Ellen McDonagh Source London South GLH was added to TNNC1.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	PRKAG2	Ellen McDonagh Source London South GLH was added to PRKAG2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	PLN	Ellen McDonagh Source London South GLH was added to PLN.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYL3	Ellen McDonagh Source London South GLH was added to MYL3.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYL2	Ellen McDonagh Source London South GLH was added to MYL2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYH7	Ellen McDonagh Source London South GLH was added to MYH7.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYH6	Ellen McDonagh Source London South GLH was added to MYH6.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYBPC3	Ellen McDonagh Source London South GLH was added to MYBPC3.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	LAMP2	Ellen McDonagh Source London South GLH was added to LAMP2.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	GLA	Ellen McDonagh Source London South GLH was added to GLA.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	FHL1	Ellen McDonagh Source London South GLH was added to FHL1.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	CSRP3	Ellen McDonagh Source London South GLH was added to CSRP3.
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	ACTC1	Ellen McDonagh Source London South GLH was added to ACTC1.
20 Feb 2019	Short QT syndrome v1.5	CACNB2	Ellen McDonagh Source London South GLH was added to CACNB2.
20 Feb 2019	Short QT syndrome v1.5	CACNA2D1	Ellen McDonagh Source London South GLH was added to CACNA2D1.
20 Feb 2019	Short QT syndrome v1.5	SLC22A5	Ellen McDonagh Source London South GLH was added to SLC22A5.
20 Feb 2019	Short QT syndrome v1.5	KCNQ1	Ellen McDonagh Source London South GLH was added to KCNQ1.
20 Feb 2019	Short QT syndrome v1.5	KCNJ2	Ellen McDonagh Source London South GLH was added to KCNJ2.
20 Feb 2019	Short QT syndrome v1.5	KCNH2	Ellen McDonagh Source London South GLH was added to KCNH2.
20 Feb 2019	Short QT syndrome v1.5	CACNA1C	Ellen McDonagh Source London South GLH was added to CACNA1C.
20 Feb 2019	Catecholaminergic polymorphic VT v1.7	CALM3	Ellen McDonagh Source London South GLH was added to CALM3.
20 Feb 2019	Catecholaminergic polymorphic VT v1.7	TRDN	Ellen McDonagh Source London South GLH was added to TRDN.
20 Feb 2019	Catecholaminergic polymorphic VT v1.7	RYR2	Ellen McDonagh Source London South GLH was added to RYR2.
20 Feb 2019	Catecholaminergic polymorphic VT v1.7	CASQ2	Ellen McDonagh Source London South GLH was added to CASQ2.
20 Feb 2019	Catecholaminergic polymorphic VT v1.7	CALM2	Ellen McDonagh Source London South GLH was added to CALM2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Catecholaminergic polymorphic VT v1.7	CALM1	Ellen McDonagh Source London South GLH was added to CALM1.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	RANGRF	Ellen McDonagh Source London South GLH was added to RANGRF.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	PKP2	Ellen McDonagh Source London South GLH was added to PKP2.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	KCNJ8	Ellen McDonagh Source London South GLH was added to KCNJ8.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	KCND3	Ellen McDonagh Source London South GLH was added to KCND3.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	CACNA2D1	Ellen McDonagh Source London South GLH was added to CACNA2D1.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	CACNA1C	Ellen McDonagh Source London South GLH was added to CACNA1C.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	SCN5A	Ellen McDonagh Source London South GLH was added to SCN5A.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	SCN3B	Ellen McDonagh Source London South GLH was added to SCN3B.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	SCN1B	Ellen McDonagh Source London South GLH was added to SCN1B.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	SCN10A	Ellen McDonagh Source London South GLH was added to SCN10A.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	KCNE3	Ellen McDonagh Source London South GLH was added to KCNE3.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	HCN4	Ellen McDonagh Source London South GLH was added to HCN4.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	GPD1L	Ellen McDonagh Source London South GLH was added to GPD1L.
20 Feb 2019	Brugada syndrome and cardiac sodium channel disease v1.20	CACNB2	Ellen McDonagh Source London South GLH was added to CACNB2.
20 Feb 2019	Long QT syndrome v1.14	SCN4B	Ellen McDonagh Source London South GLH was added to SCN4B.
20 Feb 2019	Long QT syndrome v1.14	RYR2	Ellen McDonagh Source London South GLH was added to RYR2.
20 Feb 2019	Long QT syndrome v1.14	CAV3	Ellen McDonagh Source London South GLH was added to CAV3.
20 Feb 2019	Long QT syndrome v1.14	CALM1	Ellen McDonagh Source London South GLH was added to CALM1.
20 Feb 2019	Long QT syndrome v1.14	SNTA1	Ellen McDonagh Source London South GLH was added to SNTA1.
20 Feb 2019	Long QT syndrome v1.14	SCN5A	Ellen McDonagh Source London South GLH was added to SCN5A.
20 Feb 2019	Long QT syndrome v1.14	KCNQ1	Ellen McDonagh Source London South GLH was added to KCNQ1.
20 Feb 2019	Long QT syndrome v1.14	KCNJ5	Ellen McDonagh Source London South GLH was added to KCNJ5.
20 Feb 2019	Long QT syndrome v1.14	KCNJ2	Ellen McDonagh Source London South GLH was added to KCNJ2.
20 Feb 2019	Long QT syndrome v1.14	KCNH2	Ellen McDonagh Source London South GLH was added to KCNH2.
20 Feb 2019	Long QT syndrome v1.14	KCNE2	Ellen McDonagh Source London South GLH was added to KCNE2.
20 Feb 2019	Long QT syndrome v1.14	KCNE1	Ellen McDonagh Source London South GLH was added to KCNE1.
20 Feb 2019	Long QT syndrome v1.14	CACNA1C	Ellen McDonagh Source London South GLH was added to CACNA1C.
20 Feb 2019	Long QT syndrome v1.14	ANK2	Ellen McDonagh Source London South GLH was added to ANK2.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	SMAD6	Ellen McDonagh gene: SMAD6 was added gene: SMAD6 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH Mode of inheritance for gene: SMAD6 was set to
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	MYLK2	Ellen McDonagh gene: MYLK2 was added gene: MYLK2 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH Mode of inheritance for gene: MYLK2 was set to
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	MAT2A	Ellen McDonagh gene: MAT2A was added gene: MAT2A was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH Mode of inheritance for gene: MAT2A was set to
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	EMILIN1	Ellen McDonagh gene: EMILIN1 was added gene: EMILIN1 was added to Thoracic aortic aneurysm or dissection. Sources: London South GLH Mode of inheritance for gene: EMILIN1 was set to
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	MFAP5	Ellen McDonagh Source London South GLH was added to MFAP5.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	FOXE3	Ellen McDonagh Source London South GLH was added to FOXE3.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	PLOD1	Ellen McDonagh Source London South GLH was added to PLOD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	TGFBR2	Ellen McDonagh Source London South GLH was added to TGFBR2.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	TGFBR1	Ellen McDonagh Source London South GLH was added to TGFBR1.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	TGFB3	Ellen McDonagh Source London South GLH was added to TGFB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	TGFB2	Ellen McDonagh Source London South GLH was added to TGFB2.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	SMAD4	Ellen McDonagh Source London South GLH was added to SMAD4. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	SMAD3	Ellen McDonagh Source London South GLH was added to SMAD3.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	SMAD2	Ellen McDonagh Source London South GLH was added to SMAD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	SLC2A10	Ellen McDonagh Source London South GLH was added to SLC2A10. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	SKI	Ellen McDonagh Source London South GLH was added to SKI.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	PRKG1	Ellen McDonagh Source London South GLH was added to PRKG1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	NOTCH1	Ellen McDonagh Source London South GLH was added to NOTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	MYLK	Ellen McDonagh Source London South GLH was added to MYLK.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	MYH11	Ellen McDonagh Source London South GLH was added to MYH11.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	MED12	Ellen McDonagh Source London South GLH was added to MED12. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	LOX	Ellen McDonagh Source London South GLH was added to LOX. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	FLNA	Ellen McDonagh Source London South GLH was added to FLNA. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	FLCN	Ellen McDonagh Source London South GLH was added to FLCN.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	FBN2	Ellen McDonagh Source London South GLH was added to FBN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	FBN1	Ellen McDonagh Source London South GLH was added to FBN1.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	ELN	Ellen McDonagh Source London South GLH was added to ELN. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	EFEMP2	Ellen McDonagh Source London South GLH was added to EFEMP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	COL5A2	Ellen McDonagh Source London South GLH was added to COL5A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	COL5A1	Ellen McDonagh Source London South GLH was added to COL5A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	COL3A1	Ellen McDonagh Source London South GLH was added to COL3A1.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	COL1A2	Ellen McDonagh Source London South GLH was added to COL1A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	COL1A1	Ellen McDonagh Source London South GLH was added to COL1A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	BGN	Ellen McDonagh Source London South GLH was added to BGN. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.85	ACTA2	Ellen McDonagh Source London South GLH was added to ACTA2.
20 Feb 2019	Thoracic aortic aneurysm or dissection v1.84	ADAMTSL4	Simon Thomas gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Thoracic aortic aneurysm or dissection. Sources: UKGTN Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: ADAMTSL4 was set to GREEN Added comment: ADAMTSL4 is not currently available as a green gene on any panel. It is red in both the Craniosynostosis and Cataracts panels. In OMIM it is associated with Ectopia lentis (isolated and et pupillae). There may be an argument for including this on the panel as a differential diagnosis for Marfan syndrome (although there are no cardiac features), particularly as the test for Marfan syndrome has been amalgamted with TAAD in the Test directory. The gene is included in the Wessex UKGTN TAAD panel and to date we have identified six homozygous cases of c.767_786del and one compound heterozygote. Four were referred for Marfan syndrome and specifically requested FBN1 testing. Sources: UKGTN
20 Feb 2019	Primary ciliary disorders v1.16	DNAH9	Simon Thomas gene: DNAH9 was added gene: DNAH9 was added to Primary ciliary disorders. Sources: Literature Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to PMID: 30471717; 30471718 Review for gene: DNAH9 was set to GREEN Added comment: Discussed on Respiratory TC. Sources: Literature
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	VDR	Rebecca Foulger commented on gene: VDR: This gene was demoted from Red to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	SASH1	Rebecca Foulger commented on gene: SASH1: This gene was demoted from Red to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	TSC2	Rebecca Foulger edited their review of gene: TSC2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	TSC1	Rebecca Foulger edited their review of gene: TSC1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	TMC8	Rebecca Foulger edited their review of gene: TMC8: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	TMC6	Rebecca Foulger edited their review of gene: TMC6: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	SUFU	Rebecca Foulger edited their review of gene: SUFU: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	STK11	Rebecca Foulger edited their review of gene: STK11: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	SAMD9	Rebecca Foulger edited their review of gene: SAMD9: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PTEN	Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PTCH2	Rebecca Foulger edited their review of gene: PTCH2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PTCH1	Rebecca Foulger edited their review of gene: PTCH1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PRKAR1A	Rebecca Foulger edited their review of gene: PRKAR1A: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PORCN	Rebecca Foulger edited their review of gene: PORCN: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PIK3CA	Rebecca Foulger edited their review of gene: PIK3CA: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	PDGFRB	Rebecca Foulger edited their review of gene: PDGFRB: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	NRAS	Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	NF1	Rebecca Foulger edited their review of gene: NF1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	MC1R	Rebecca Foulger edited their review of gene: MC1R: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	LEF1	Rebecca Foulger edited their review of gene: LEF1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	KRT17	Rebecca Foulger edited their review of gene: KRT17: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	KRAS	Rebecca Foulger edited their review of gene: KRAS: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	JAK2	Rebecca Foulger edited their review of gene: JAK2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	IRF4	Rebecca Foulger edited their review of gene: IRF4: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	HRAS	Rebecca Foulger edited their review of gene: HRAS: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	GLA	Rebecca Foulger edited their review of gene: GLA: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	GALNT3	Rebecca Foulger edited their review of gene: GALNT3: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	FGFR3	Rebecca Foulger edited their review of gene: FGFR3: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	FGFR2	Rebecca Foulger edited their review of gene: FGFR2: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	FGF23	Rebecca Foulger edited their review of gene: FGF23: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	CTNNB1	Rebecca Foulger edited their review of gene: CTNNB1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	CIB1	Rebecca Foulger edited their review of gene: CIB1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	CDKN2A	Rebecca Foulger edited their review of gene: CDKN2A: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	CDK4	Rebecca Foulger edited their review of gene: CDK4: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	BRAF	Rebecca Foulger edited their review of gene: BRAF: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	APC	Rebecca Foulger edited their review of gene: APC: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	ACTRT1	Rebecca Foulger edited their review of gene: ACTRT1: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	FLCN	Rebecca Foulger commented on gene: FLCN: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: FLCN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	LEMD3	Rebecca Foulger edited their review of gene: LEMD3: Added comment: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: LEMD3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.; Set current diagnostic: yes
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	MLH1	Rebecca Foulger reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	MSH2	Rebecca Foulger reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
19 Feb 2019	Multiple monogenic benign skin tumours v0.7	CYLD	Rebecca Foulger commented on gene: CYLD: In addition to being on the original list (25.Jan.2019), this gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. The revised list more accurately matches Clinical Indication R230. Gene Symbol submitted: CYLD; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	MLH1	Rebecca Foulger gene: MLH1 was added gene: MLH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	MSH2	Rebecca Foulger gene: MSH2 was added gene: MSH2 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	VDR	Rebecca Foulger Source Expert Review Removed was added to VDR. Rating Changed from Red List (low evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	SASH1	Rebecca Foulger Source Expert Review Removed was added to SASH1. Rating Changed from Red List (low evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	TSC2	Rebecca Foulger Source Expert Review Removed was added to TSC2. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	TSC1	Rebecca Foulger Source Expert Review Removed was added to TSC1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	TMC8	Rebecca Foulger Source Expert Review Removed was added to TMC8. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	TMC6	Rebecca Foulger Source Expert Review Removed was added to TMC6. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	SUFU	Rebecca Foulger Source Expert Review Removed was added to SUFU. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	STK11	Rebecca Foulger Source Expert Review Removed was added to STK11. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	SAMD9	Rebecca Foulger Source Expert Review Removed was added to SAMD9. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PTEN	Rebecca Foulger Source Expert Review Removed was added to PTEN. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PTCH2	Rebecca Foulger Source Expert Review Removed was added to PTCH2. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PTCH1	Rebecca Foulger Source Expert Review Removed was added to PTCH1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PRKAR1A	Rebecca Foulger Source Expert Review Removed was added to PRKAR1A. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PORCN	Rebecca Foulger Source Expert Review Removed was added to PORCN. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PIK3CA	Rebecca Foulger Source Expert Review Removed was added to PIK3CA. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	PDGFRB	Rebecca Foulger Source Expert Review Removed was added to PDGFRB. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	NRAS	Rebecca Foulger Source Expert Review Removed was added to NRAS. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	NF1	Rebecca Foulger Source Expert Review Removed was added to NF1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	MC1R	Rebecca Foulger Source Expert Review Removed was added to MC1R. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	LEF1	Rebecca Foulger Source Expert Review Removed was added to LEF1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	KRT17	Rebecca Foulger Source Expert Review Removed was added to KRT17. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	KRAS	Rebecca Foulger Source Expert Review Removed was added to KRAS. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	JAK2	Rebecca Foulger Source Expert Review Removed was added to JAK2. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	IRF4	Rebecca Foulger Source Expert Review Removed was added to IRF4. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	HRAS	Rebecca Foulger Source Expert Review Removed was added to HRAS. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	GLA	Rebecca Foulger Source Expert Review Removed was added to GLA. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	GALNT3	Rebecca Foulger Source Expert Review Removed was added to GALNT3. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	FGFR3	Rebecca Foulger Source Expert Review Removed was added to FGFR3. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	FGFR2	Rebecca Foulger Source Expert Review Removed was added to FGFR2. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	FGF23	Rebecca Foulger Source Expert Review Removed was added to FGF23. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	CTNNB1	Rebecca Foulger Source Expert Review Removed was added to CTNNB1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	CIB1	Rebecca Foulger Source Expert Review Removed was added to CIB1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	CDKN2A	Rebecca Foulger Source Expert Review Removed was added to CDKN2A. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	CDK4	Rebecca Foulger Source Expert Review Removed was added to CDK4. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	BRAF	Rebecca Foulger Source Expert Review Removed was added to BRAF. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	APC	Rebecca Foulger Source Expert Review Removed was added to APC. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Multiple monogenic benign skin tumours v0.6	ACTRT1	Rebecca Foulger Source Expert Review Removed was added to ACTRT1. Rating Changed from Green List (high evidence) to No List (delete)
19 Feb 2019	Bardet Biedl syndrome v0.4	TRIM32	Ivone Leong gene: TRIM32 was added gene: TRIM32 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to 16606853; 11822024 Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11, 615988
19 Feb 2019	Bardet Biedl syndrome v0.4	IFT74	Ivone Leong gene: IFT74 was added gene: IFT74 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20, 617119
19 Feb 2019	Bardet Biedl syndrome v0.4	CCDC28B	Ivone Leong gene: CCDC28B was added gene: CCDC28B was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 23015189 Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
19 Feb 2019	Bardet Biedl syndrome v0.4	C8orf37	Ivone Leong gene: C8orf37 was added gene: C8orf37 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 26854863; 27008867 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406
19 Feb 2019	Bardet Biedl syndrome v0.4	BBIP1	Ivone Leong gene: BBIP1 was added gene: BBIP1 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBIP1 were set to 24026985 Phenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995
19 Feb 2019	Bardet Biedl syndrome v0.4	IFT27	Ivone Leong gene: IFT27 was added gene: IFT27 was added to Bardet Biedl syndrome. Sources: Expert Review Amber Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT27 were set to ?Bardet-Biedl syndrome 19, 615996
19 Feb 2019	Bleeding and platelet disorders v0.28	ABCG5	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ABCG8	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ACTB	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ACTN1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ACVRL1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ADAMTS13	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ANKRD26	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ANO6	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	AP3B1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	AP3D1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ARPC1B	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	BLOC1S3	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	BLOC1S6	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	CDC42	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	CYCS	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	DIAPH1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	DTNBP1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ENG	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	EPHB2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ETV6	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F10	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F11	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F12	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F13A1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F13B	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F2R	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F5	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F7	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F8	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	F9	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FERMT3	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FGA	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FGB	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FGG	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FLI1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FLNA	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	FYB1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GATA1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GBA	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GFI1B	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GGCX	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GNE	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GP1BA	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GP1BB	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GP6	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	GP9	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	HOXA11	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	HPS1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	HPS3	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	HPS4	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	HPS5	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	HPS6	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ITGA2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ITGA2B	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	ITGB3	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	KDSR	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	KLKB1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	KNG1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	LMAN1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	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
19 Feb 2019	Bleeding and platelet disorders v0.28	MCFD2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	MCFD2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	MECOM	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	MPIG6B	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	MPL	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	MYH9	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	NBEA	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	P2RY12	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	PLA2G4A	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	PLAU	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	PRKACG	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	PTGS1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	PTPRJ	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	RASGRP2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	RBM8A	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	RUNX1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	SERPINF2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	SLC45A2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	SLFN14	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	SRC	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	STIM1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	STXBP2	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	TBXA2R	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	TBXAS1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	THBD	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	THPO	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	TPM4	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	TUBB1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	VIPAS39	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	VKORC1	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	VPS33B	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	VWF	Louise Daugherty Deleted their comment
19 Feb 2019	Bleeding and platelet disorders v0.28	WAS	Louise Daugherty Deleted their comment
19 Feb 2019	Bardet Biedl syndrome v0.3	ALMS1	Anna de Burca Classified gene: ALMS1 as No list
19 Feb 2019	Bardet Biedl syndrome v0.3	ALMS1	Anna de Burca Added comment: Comment on list classification: Associated with Alstrom syndrome rather than Bardet-Biedl syndrome.
19 Feb 2019	Bardet Biedl syndrome v0.3	ALMS1	Anna de Burca Gene: alms1 has been removed from the panel.
19 Feb 2019	Stickler syndrome v1.25	COL9A3	Anna de Burca reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30450842; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Feb 2019	Bilateral congenital or childhood onset cataracts v1.26	LCAT	Anna de Burca Classified gene: LCAT as Green List (high evidence)
19 Feb 2019	Bilateral congenital or childhood onset cataracts v1.26	LCAT	Anna de Burca Added comment: Comment on list classification: Upgraded based on curator review and expert advice.
19 Feb 2019	Bilateral congenital or childhood onset cataracts v1.26	LCAT	Anna de Burca Gene: lcat has been classified as Green List (High Evidence).
19 Feb 2019	Bilateral congenital or childhood onset cataracts v1.25	FBN1	Anna de Burca reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: 12525539; Phenotypes: WEILL-MARCHESANI SYNDROME 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Feb 2019	Intellectual disability v2.684	MSL3	Ivone Leong Phenotypes for gene: MSL3 were changed from to Muscular hypotonia; Feeding difficulties; Neurodevelopmental delay; Intellectual disability; no OMIM number
19 Feb 2019	Intellectual disability v2.683	MSL3	Ivone Leong Publications for gene: MSL3 were set to 26350204; 19377476; 28135719; 25529582
19 Feb 2019	Intellectual disability v2.682	METTL23	Ivone Leong Classified gene: METTL23 as Green List (high evidence)
19 Feb 2019	Intellectual disability v2.682	METTL23	Ivone Leong Added comment: Comment on list classification: METTL23 has been given a green gene rating based on the evidence provided by Konstantinos Varvagiannis (Other). There is enough evidence to support a gene-disease link.
19 Feb 2019	Intellectual disability v2.682	METTL23	Ivone Leong Gene: mettl23 has been classified as Green List (High Evidence).
19 Feb 2019	Intellectual disability v2.681	METTL23	Ivone Leong Phenotypes for gene: METTL23 were changed from Mental retardation, autosomal recessive 44 (MIM 615942) to Mental retardation, autosomal recessive 44, 615942
18 Feb 2019	Monogenic hearing loss v1.93	DIAPH1	Eleanor Williams commented on gene: DIAPH1
18 Feb 2019	Monogenic hearing loss v1.93	DIABLO	Eleanor Williams Publications for gene: DIABLO were set to PMID: 10929711; 10929712; 10972280; 11140637; 11140638; 11242052; 11971981; 15557007; 15814844; 21722859
18 Feb 2019	Monogenic hearing loss v1.92	DIABLO	Eleanor Williams Mode of inheritance for gene: DIABLO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Monogenic hearing loss v1.91	DIABLO	Eleanor Williams Classified gene: DIABLO as Amber List (moderate evidence)
18 Feb 2019	Monogenic hearing loss v1.91	DIABLO	Eleanor Williams Added comment: Comment on list classification: Changed rating from red to amber as there are now two cases of variants in this gene associated with hearing loss
18 Feb 2019	Monogenic hearing loss v1.91	DIABLO	Eleanor Williams Gene: diablo has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Monogenic hearing loss v1.90	DIABLO	Eleanor Williams Classified gene: DIABLO as Amber List (moderate evidence)
18 Feb 2019	Monogenic hearing loss v1.90	DIABLO	Eleanor Williams Added comment: Comment on list classification: Changed rating from red to amber as there are now two cases of variants in this gene associated with hearing loss
18 Feb 2019	Monogenic hearing loss v1.90	DIABLO	Eleanor Williams Gene: diablo has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Monogenic hearing loss v1.89	DIABLO	Eleanor Williams commented on gene: DIABLO
18 Feb 2019	Familial hypercholesterolaemia v1.21	APOE	Simon Thomas reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
18 Feb 2019	Intellectual disability v2.680	MEIS2	Ivone Leong Publications for gene: MEIS2 were set to 27225850, 24678003, 25712757; 30291340; 30055086
18 Feb 2019	Intellectual disability v2.679	NBEA	Ivone Leong Publications for gene: NBEA were set to
18 Feb 2019	Intellectual disability v2.678	MEIS2	Ivone Leong Classified gene: MEIS2 as Green List (high evidence)
18 Feb 2019	Intellectual disability v2.678	MEIS2	Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the additional evidence provided by Konstantinos Varvagiannis (Other). MEIS2 is associated with a phenotype in OMIM but not in Gene2Phenotype.
18 Feb 2019	Intellectual disability v2.678	MEIS2	Ivone Leong Gene: meis2 has been classified as Green List (High Evidence).
18 Feb 2019	Inherited bleeding disorders v1.150	SLC35A1	Rebecca Foulger commented on gene: SLC35A1: Added watchlist tag.
18 Feb 2019	Inherited bleeding disorders v1.150	SLC35A1	Rebecca Foulger Tag watchlist tag was added to gene: SLC35A1.
18 Feb 2019	Inherited bleeding disorders v1.150	SLC35A1	Rebecca Foulger Classified gene: SLC35A1 as Amber List (moderate evidence)
18 Feb 2019	Inherited bleeding disorders v1.150	SLC35A1	Rebecca Foulger Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Inherited bleeding disorders v1.149	SLC35A1	Rebecca Foulger gene: SLC35A1 was added gene: SLC35A1 was added to Inherited bleeding disorders. Sources: Literature Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 15576474; 30115659 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, 603585; severe thrombocytopenia; hemorrhages; macrothrombocytopenia Review for gene: SLC35A1 was set to AMBER Added comment: Added SLC35A1 to the 'Inherited bleeding disorders' panel with Amber rating as suggested by Helen Brittain, based on pattern of bleeding anomalies and macrothrombocytopaenia reported in PMID:15576474 (Martinez-Duncker, 2005. Note a 'leaky' polymorphism) and PMID:30115659 (Kauskot et al. 2018). More cases required for a diagnostic rating. Sources: Literature
18 Feb 2019	Primary immunodeficiency or monogenic inflammatory bowel disease v1.29	ACD	Louise Daugherty Tag watchlist was removed from gene: ACD.
18 Feb 2019	Likely inborn error of metabolism v1.49	SLC35A1	Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
18 Feb 2019	Likely inborn error of metabolism v1.49	SLC35A1	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'.
18 Feb 2019	Likely inborn error of metabolism v1.49	SLC35A1	Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
18 Feb 2019	Intellectual disability v2.677	MEIS2	Ivone Leong Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation to Cleft palate, cardiac defects, and mental retardation; Oral cleft; Abnormal heart morphology; Intellectual disability; Cleft palate, cardiac defects, and mental retardation, 600987
18 Feb 2019	Undiagnosed metabolic disorders v1.92	SLC35A1	Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
18 Feb 2019	Undiagnosed metabolic disorders v1.92	SLC35A1	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green as agreed with Helen Brittain following review of 2018 paper (PMID:30115659) and promotion to Green on the 'Congenital disorders of glycosylation' panel. In addition to the 'leaky' polymorphism reported in PMID:15576474, there are 3 cases (PMIDs 23873973, 28856833, 30115659) to support causation of glycosylation disorder.
18 Feb 2019	Undiagnosed metabolic disorders v1.92	SLC35A1	Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
18 Feb 2019	Intellectual disability v2.676	MEIS2	Ivone Leong Publications for gene: MEIS2 were set to 27225850, 24678003, 25712757
18 Feb 2019	Intellectual disability v2.675	MCM3AP	Ivone Leong Classified gene: MCM3AP as Green List (high evidence)
18 Feb 2019	Intellectual disability v2.675	MCM3AP	Ivone Leong Added comment: Comment on list classification: MCM3AP has been given a green gene rating, based on the evidence provided by Konstantinos Varvagiannis (Other) and that there are >3 cases of unrelated patients with variants in MCM3AP who have ID. The gene is associated with a phenotype on OMIM but not Gene2Phenotype.
18 Feb 2019	Intellectual disability v2.675	MCM3AP	Ivone Leong Gene: mcm3ap has been classified as Green List (High Evidence).
18 Feb 2019	Undiagnosed metabolic disorders v1.91	SLC35A1	Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308
18 Feb 2019	Likely inborn error of metabolism v1.48	SLC35A1	Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308
18 Feb 2019	Congenital disorders of glycosylation v1.24	SLC35A1	Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
18 Feb 2019	Congenital disorders of glycosylation v1.24	SLC35A1	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review of 2018 paper (30115659) and clinical agreement from Helen Brittain. Although rating on DD-G2P remains as 'Probable' and the phenotypic spectrum is not consistent, there are sufficient (>3) cases with homozygous or compound het SLC35A1 variants to support causation of glycosylation disorder.
18 Feb 2019	Congenital disorders of glycosylation v1.24	SLC35A1	Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
18 Feb 2019	Congenital disorders of glycosylation v1.23	SLC35A1	Rebecca Foulger commented on gene: SLC35A1
18 Feb 2019	Congenital disorders of glycosylation v1.23	SLC35A1	Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IIf, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
18 Feb 2019	Congenital disorders of glycosylation v1.22	SLC35A1	Rebecca Foulger Publications for gene: SLC35A1 were set to 15576474; 23873973
18 Feb 2019	Early onset or syndromic epilepsy v1.19	SLC35A1	Rebecca Foulger commented on gene: SLC35A1: Removed watchlist tag after promotion of SLC35A1 to Green.
18 Feb 2019	Early onset or syndromic epilepsy v1.19	SLC35A1	Rebecca Foulger Tag watchlist was removed from gene: SLC35A1.
18 Feb 2019	Early onset or syndromic epilepsy v1.19	SLC35A1	Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
18 Feb 2019	Early onset or syndromic epilepsy v1.19	SLC35A1	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: A recent PMID:30115659 paper (Kauskot et al. 2018) provides a third SLC35A1 case with a seizure phenotype (the first two cases coming from PMID:23873973 and PMID:28856833).
18 Feb 2019	Early onset or syndromic epilepsy v1.19	SLC35A1	Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
18 Feb 2019	Early onset or syndromic epilepsy v1.18	SLC35A1	Rebecca Foulger commented on gene: SLC35A1
18 Feb 2019	Early onset or syndromic epilepsy v1.18	SLC35A1	Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585 to Congenital disorder of glycosylation, type IIf, 603585; seizures
18 Feb 2019	Early onset or syndromic epilepsy v1.17	SLC35A1	Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973; 15576474; 28856833
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	WRAP53	Louise Daugherty commented on gene: WRAP53: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 3, 613988;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 3; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	WIPF1	Louise Daugherty commented on gene: WIPF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WIPF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	WAS	Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Neutropenia, severe congenital, X-linked 300299;Thrombocytopenia, X-linked 313900;Thrombocytopenia, X-linked, intermittent 313900;Wiskott-Aldrich syndrome 301000; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	VPS45	Louise Daugherty commented on gene: VPS45: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285;Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;VPS45 deficiency;Severe congenital neutropenia; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	USB1	Louise Daugherty commented on gene: USB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Poikiloderma with neutropenia 604173;Dyskeratosis congenita; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	TINF2	Louise Daugherty commented on gene: TINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome;Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130;Revesz Syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	THPO	Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 187950 Thrombocythemia 1; PMID(s): 28466964; 24085763; 28559357; 29191945
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	TERT	Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Aplastic Anemia;Coronary artery disease;{Dyskeratosis congenita, autosomal recessive 4}, 613989;{Dyskeratosis congenita, autosomal dominant 2}, 613989;{Pulmonary fibrosis, telomere-related, 1}, 614742;{Leukemia, acute myeloid}, 601626;{Melanoma, cutaneous malignant, 9}, 615134; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	TERC	Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	TAZ	Louise Daugherty commented on gene: TAZ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Barth syndrome 302060; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	SRP72	Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial; PMID(s): 22541560; 29146883
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	SBDS	Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Shwachman-Diamond syndrome 260400; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	SAMD9L	Louise Daugherty commented on gene: SAMD9L: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Ataxia-pancytopenia syndrome 159550; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	SAMD9	Louise Daugherty commented on gene: SAMD9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: MIRAGE syndrome, 617053; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	RTEL1	Louise Daugherty commented on gene: RTEL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 615190;Dyskeratosis congenita, autosomal dominant 4 615190; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	RMRP	Louise Daugherty commented on gene: RMRP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RMRP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia; Cartilage-hair hypoplasia; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	RBM8A	Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): 22366785; 28128450; 24220582; 17236129
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	PARN	Louise Daugherty commented on gene: PARN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PARN; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; PMID(s): 25893599; 25848748; 26342108
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	NOP10	Louise Daugherty commented on gene: NOP10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NOP10; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 1 224230; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	NHP2	Louise Daugherty commented on gene: NHP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NHP2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 613987; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	MPL	Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): 10077649; 18024606
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	MPIG6B	Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 61744 ?Thrombocytopenia, anemia, and myelofibrosis1; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	MECOM	Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): 29540340
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	LAT	Louise Daugherty commented on gene: LAT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LAT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Immunodeficiency 52, 617514; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	KLF1	Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	KIF23	Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	JAGN1	Louise Daugherty commented on gene: JAGN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): 11101832
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	HAX1	Louise Daugherty commented on gene: HAX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 3 Autosomal Dominant;Neutropenia, severe congenital 3, autosomal recessive, 610738; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	GFI1	Louise Daugherty commented on gene: GFI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	GATA2	Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;Familial MDS (Myelodysplastic syndromes);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172;Emberger syndrome, 614038 (includes pancytopenia);{Myelodysplastic syndrome, susceptibility to}, 614286;{Leukemia, acute myeloid, susceptibility to}, 601626;Primary Lymphedema with Myelodysplasia;Immunodeficiency 21;Leukemia, Acute Myeloid;Lymphedema, Primary, With Myelodysplasia;Myelodysplastic Syndrome;Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	G6PC3	Louise Daugherty commented on gene: G6PC3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 4 Autosomal Dominant;Neutropenia, severe congenital 4, autosomal recessive, 612541;Dursun syndrome, 612541;Severe Congenital Neutropenia; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	FYB1	Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): 25876182; 25516138
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	ERCC6L2	Louise Daugherty commented on gene: ERCC6L2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bone marrow failure syndrome 2, 615715; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	ELANE	Louise Daugherty commented on gene: ELANE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	EFL1	Louise Daugherty commented on gene: EFL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EFL1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617941 Shwachman-Diamond syndrome 2; PMID(s): 29970384, 28331068
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	DNAJC21	Louise Daugherty commented on gene: DNAJC21: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Pancytopaenia;Bone Marrow Failure;Bone marrow failure syndrome 3, 617052; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	DKC1	Louise Daugherty commented on gene: DKC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	CXCR4	Louise Daugherty commented on gene: CXCR4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: WHIM syndrome, 193670;Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;Severe congenital neutropenia; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	CTC1	Louise Daugherty commented on gene: CTC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	CSF3R	Louise Daugherty commented on gene: CSF3R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Severe congenital neutropenia;Neutropenia, severe congenital, 7, autosomal recessive 617014; PMID(s): none submitted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.31	ACD	Louise Daugherty commented on gene: ACD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): 25205116; 25233904
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	WRAP53	Steve Keeney reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis congenita, autosomal recessive 3, 613988, Dyskeratosis Congenita, Recessive, Dyskeratosis Congenita, Autosomal Recessive, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	WIPF1	Steve Keeney reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiskott-Aldrich syndrome like, WIP deficiency, WIP deficiency, ?Wiskott-Aldrich syndrome 2, 614493, Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	WAS	Steve Keeney reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, X-linked, 300299, Thrombocytopenia, X-linked 313900, Thrombocytopenia, X-linked, intermittent 313900, Wiskott-Aldrich syndrome, 301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	VPS45	Steve Keeney reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285, Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency, Severe congenital neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	USB1	Steve Keeney reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Poikiloderma with neutropenia, 604173, Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	TINF2	Steve Keeney reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Revesz Syndrome, Dyskeratosis congenita, autosomal dominant 3, 613990, Revesz syndrome, 268130, Revesz Syndrome, Dyskeratosis congenita, Dyskeratosis Congenita, Dominant, Dyskeratosis Congenita, Autosomal Dominant, 3, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	THPO	Steve Keeney reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocythemia 1, 187950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	TERT	Steve Keeney reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aplastic Anemia, Coronary artery disease, {Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989, {Pulmonary fibrosis, telomere-related, 1}, 614742, {Leukemia, acute myeloid}, 601626, {Melanoma, cutaneous malignant, 9}, 615134; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	TERC	Steve Keeney reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Dominant, 1, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	TAZ	Steve Keeney reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Barth syndrome, 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	SRP72	Steve Keeney reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Bone Marrow Failure, Familial, Bone marrow failure, familial, 614675, Familial Bone Marrow Failure, Familial MDS (Myelodysplastic syndromes), Bone Marrow Failure, Familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	SBDS	Steve Keeney reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome, 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	SAMD9L	Steve Keeney reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-pancytopenia syndrome, 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	SAMD9	Steve Keeney reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MIRAGE syndrome, 617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	RTEL1	Steve Keeney reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, 615190, Dyskeratosis congenita, autosomal dominant 4, 615190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	RMRP	Steve Keeney reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Severe congenital neutropenia, Cartilage-hair hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	RBM8A	Steve Keeney reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	PARN	Steve Keeney reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	NOP10	Steve Keeney reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, 224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	NHP2	Steve Keeney reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	MPL	Steve Keeney reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia, congenital amegakaryocytic, 604498; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	MPIG6B	Steve Keeney reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Thrombocytopenia, anemia, and myelofibrosis1, 617441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	MECOM	Steve Keeney reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	LAT	Steve Keeney reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 52, 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	KLF1	Steve Keeney reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	KIF23	Steve Keeney reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	JAGN1	Steve Keeney reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	HAX1	Steve Keeney reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 3 Autosomal Dominant, Neutropenia, severe congenital 3, autosomal recessive, 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	GFI1	Steve Keeney reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 2 Autosomal Dominant, Neutropenia, Nonimmune Chronic Idiopathic, Of Adults, Neutropenia, severe congenital 2, autosomal dominant, 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	GATA2	Steve Keeney reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies, Familial MDS (Myelodysplastic syndromes), Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172, Emberger syndrome, 614038 (includes pancytopenia), {Myelodysplastic syndrome, susceptibility to}, 614286, {Leukemia, acute myeloid, susceptibility to}, 601626, Primary Lymphedema with Myelodysplasia, Immunodeficiency 21, Leukemia, Acute Myeloid, Lymphedema, Primary, With Myelodysplasia, Myelodysplastic Syndrome, Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	GATA1	Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric, Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	G6PC3	Steve Keeney reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 4 Autosomal Dominant, Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	FYB1	Steve Keeney reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia 3, 273900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	ERCC6L2	Steve Keeney reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bone marrow failure syndrome 2, 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	ELANE	Steve Keeney reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	EFL1	Steve Keeney reviewed gene: EFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	DNAJC21	Steve Keeney reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pancytopaenia, Bone Marrow Failure, Bone marrow failure syndrome 3, 617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	DKC1	Steve Keeney reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Dyskeratosis congenita, X-linked, 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	CXCR4	Steve Keeney reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WHIM syndrome, 193670, Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated, Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	CTC1	Steve Keeney reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis Congenita, Recessive, Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	CSF3R	Steve Keeney reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Severe congenital neutropenia, Neutropenia, severe congenital, 7, autosomal recessive, 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.30	ACD	Steve Keeney reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Intellectual disability v2.674	SLC35A1	Rebecca Foulger commented on gene: SLC35A1: Removed watchlist tag following promotion of SLC35A1 to Green.
18 Feb 2019	Intellectual disability v2.674	SLC35A1	Rebecca Foulger Tag watchlist was removed from gene: SLC35A1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	WRAP53	Louise Daugherty Added phenotypes Dyskeratosis Congenita, Autosomal Recessive, 3; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita, autosomal recessive 3, 613988; Dyskeratosis congenita for gene: WRAP53
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	WIPF1	Louise Daugherty Added phenotypes WIP deficiency; Wiskott-Aldrich syndrome like, WIP deficiency; ?Wiskott-Aldrich syndrome 2, 614493; Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent for gene: WIPF1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	WAS	Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent 313900; Thrombocytopenia, X-linked 313900; Wiskott-Aldrich syndrome, 301000; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	VPS45	Louise Daugherty Added phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	USB1	Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	TINF2	Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant for gene: TINF2
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	THPO	Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO Publications for gene THPO were changed from 19553636; 10583217 to 24085763; 28466964; 28559357; 29191945
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	TERT	Louise Daugherty Added phenotypes {Pulmonary fibrosis, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989; Coronary artery disease; {Melanoma, cutaneous malignant, 9}, 615134; Aplastic Anemia; {Leukemia, acute myeloid}, 601626; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	TERC	Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	TAZ	Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	SRP72	Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72 Publications for gene SRP72 were changed from 22541560 to 22541560; 29146883
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	SBDS	Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	SAMD9L	Louise Daugherty Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	SAMD9	Louise Daugherty Added phenotypes MIRAGE syndrome, 617053 for gene: SAMD9
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	RTEL1	Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190 for gene: RTEL1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	RMRP	Louise Daugherty Added phenotypes Cartilage-hair hypoplasia; Severe congenital neutropenia for gene: RMRP
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	RBM8A	Louise Daugherty Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RBM8A Publications for gene RBM8A were changed from 22366785; 17236129 to 22366785; 24220582; 28128450; 17236129
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	PARN	Louise Daugherty Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6 for gene: PARN
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	NOP10	Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	NHP2	Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	MPL	Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 for gene: MPL Publications for gene MPL were changed from 11133753; 10077649 to 10077649; 18024606
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	MPIG6B	Louise Daugherty Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis1, 617441 for gene: MPIG6B
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	MECOM	Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM Publications for gene MECOM were changed from 20091385; 26581901 to 29540340
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	LAT	Louise Daugherty Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	KLF1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	KIF23	Louise Daugherty Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	JAGN1	Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1 Publications for gene JAGN1 were changed from 25129144 to 11101832
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	HAX1	Louise Daugherty Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738; Inherited Bone Marrow Failure Syndromes - Neutropenia; Severe congenital neutropenic; Neutropenia, Severe Congenital, 3 Autosomal Dominant for gene: HAX1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	GFI1	Louise Daugherty Added phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	GATA2	Louise Daugherty Added phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	GATA1	Louise Daugherty Added phenotypes Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	G6PC3	Louise Daugherty Added phenotypes Dursun syndrome, 612541; Severe congenital neutropenic; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Neutropenia, Severe Congenital, 4 Autosomal Dominant; Severe Congenital Neutropenia for gene: G6PC3
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	FYB1	Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1 Publications for gene FYB1 were changed from to 25516138; 25876182
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	ERCC6L2	Louise Daugherty Added phenotypes Bone marrow failure syndrome 2, 615715 for gene: ERCC6L2
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	ELANE	Louise Daugherty Added phenotypes Neutropenia, severe congenital 1, autosomal dominant, 202700; Neutropenia, cyclic, 162800 for gene: ELANE
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	EFL1	Louise Daugherty Added phenotypes Shwachman-Diamond syndrome 2, 617941 for gene: EFL1 Publications for gene EFL1 were changed from 28331068 to 29970384, 28331068
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	DNAJC21	Louise Daugherty Added phenotypes Pancytopaenia; Bone Marrow Failure; Bone marrow failure syndrome 3, 617052 for gene: DNAJC21
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	DKC1	Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	CXCR4	Louise Daugherty Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	CTC1	Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	CSF3R	Louise Daugherty Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014; Severe congenital neutropenia for gene: CSF3R
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.29	ACD	Louise Daugherty Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
18 Feb 2019	Intellectual disability v2.674	SLC35A1	Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
18 Feb 2019	Intellectual disability v2.674	SLC35A1	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: Green review by Konstantinos Varvagiannis, and currently 3 SLC35A1 cases with ID and seizures (PMIDs: 23873973, 28856833, 30115659).
18 Feb 2019	Intellectual disability v2.674	SLC35A1	Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
18 Feb 2019	Intellectual disability v2.673	SLC35A1	Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973, 15576474, 28856833; 30115659
18 Feb 2019	Intellectual disability v2.672	SLC35A1	Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type Iif, 603585; intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria to Congenital disorder of glycosylation, type IIf, 603585; intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria
18 Feb 2019	Intellectual disability v2.671	SLC35A1	Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973, 15576474, 28856833
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	WRAP53	Louise Daugherty Source North West GLH was added to WRAP53.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	WIPF1	Louise Daugherty Source North West GLH was added to WIPF1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	WAS	Louise Daugherty Source North West GLH was added to WAS.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	VPS45	Louise Daugherty Source North West GLH was added to VPS45.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	USB1	Louise Daugherty Source North West GLH was added to USB1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	TINF2	Louise Daugherty Source North West GLH was added to TINF2.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	THPO	Louise Daugherty Source North West GLH was added to THPO.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	TERT	Louise Daugherty Source North West GLH was added to TERT.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	TERC	Louise Daugherty Source North West GLH was added to TERC.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	TAZ	Louise Daugherty Source North West GLH was added to TAZ.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	SRP72	Louise Daugherty Source North West GLH was added to SRP72.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	SBDS	Louise Daugherty Source North West GLH was added to SBDS.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	SAMD9L	Louise Daugherty Source North West GLH was added to SAMD9L.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	SAMD9	Louise Daugherty Source North West GLH was added to SAMD9.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	RTEL1	Louise Daugherty Source North West GLH was added to RTEL1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	RMRP	Louise Daugherty Source North West GLH was added to RMRP.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	RBM8A	Louise Daugherty Source North West GLH was added to RBM8A.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	PARN	Louise Daugherty Source North West GLH was added to PARN.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	NOP10	Louise Daugherty Source North West GLH was added to NOP10.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	NHP2	Louise Daugherty Source North West GLH was added to NHP2.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	MPL	Louise Daugherty Source North West GLH was added to MPL.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	MPIG6B	Louise Daugherty Source North West GLH was added to MPIG6B.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	MECOM	Louise Daugherty Source North West GLH was added to MECOM.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	LAT	Louise Daugherty Source North West GLH was added to LAT.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	KLF1	Louise Daugherty Source North West GLH was added to KLF1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	KIF23	Louise Daugherty Source North West GLH was added to KIF23.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	JAGN1	Louise Daugherty Source North West GLH was added to JAGN1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	HAX1	Louise Daugherty Source North West GLH was added to HAX1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	GFI1	Louise Daugherty Source North West GLH was added to GFI1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	GATA2	Louise Daugherty Source North West GLH was added to GATA2.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	GATA1	Louise Daugherty Source North West GLH was added to GATA1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	G6PC3	Louise Daugherty Source North West GLH was added to G6PC3.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	FYB1	Louise Daugherty Source North West GLH was added to FYB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	ERCC6L2	Louise Daugherty Source North West GLH was added to ERCC6L2.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	ELANE	Louise Daugherty Source North West GLH was added to ELANE.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	EFL1	Louise Daugherty Source North West GLH was added to EFL1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	DNAJC21	Louise Daugherty Source North West GLH was added to DNAJC21.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	DKC1	Louise Daugherty Source North West GLH was added to DKC1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	CXCR4	Louise Daugherty Source North West GLH was added to CXCR4.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	CTC1	Louise Daugherty Source North West GLH was added to CTC1.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	CSF3R	Louise Daugherty Source North West GLH was added to CSF3R.
18 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.27	ACD	Louise Daugherty Source North West GLH was added to ACD.
18 Feb 2019	Intellectual disability v2.670	SLC35A1	Rebecca Foulger edited their review of gene: SLC35A1: Added comment: Summary of evidence: There are 2 existing cases of ID and SLC35A1 variants (a Turkish patient in PMID:23873973, and a German patient in PMID:28856833). There is a further paper linking SLC35A1 to a glycosylation disorder (PMID:15576474) but without an ID or epilepsy phenotype. As noted by Konstantinos Varvagiannis, a 2018 paper (PMID:30115659) now reports 2 siblings with a haematological phenotype and a homozygous p.Ser147Pro variant in SLC35A1. The authors say that the siblings' phenotypes included delayed psychomotor development, epilepsy, ataxia, microcephaly, choreiform movements, and macrothrombocytopenia.; Changed phenotypes: Congenital disorder of glycosylation, type Iif, 603585, intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	UBE2T	Louise Daugherty commented on gene: UBE2T: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: UBE2T; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Falcon anemia;Fanconi anemia, complementation group T, 616435; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	TOP3A	Louise Daugherty commented on gene: TOP3A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TOP3A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	SLX4	Louise Daugherty commented on gene: SLX4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLX4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group P, 613951; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	RAD51C	Louise Daugherty commented on gene: RAD51C: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RAD51C; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group O 613390; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	PALB2	Louise Daugherty commented on gene: PALB2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PALB2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group N 610832; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	MAD2L2	Louise Daugherty commented on gene: MAD2L2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MAD2L2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617243 ?Fanconi anemia, complementation group V; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCL	Louise Daugherty commented on gene: FANCL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group L, 614083; PMID(s): 12973351;19405097;12724401;25754594;16474160
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCI	Louise Daugherty commented on gene: FANCI: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCI; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group I, 609053; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCG	Louise Daugherty commented on gene: FANCG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group G, 614082; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCF	Louise Daugherty commented on gene: FANCF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group F, 603467; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCE	Louise Daugherty commented on gene: FANCE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group E, 600901; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCD2	Louise Daugherty commented on gene: FANCD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group D2, 227646; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCC	Louise Daugherty commented on gene: FANCC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group C, 227645; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCB	Louise Daugherty commented on gene: FANCB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	FANCA	Louise Daugherty commented on gene: FANCA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group A, 227650;Fanconi anemia; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	ERCC4	Louise Daugherty commented on gene: ERCC4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group Q, 615272; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	BRIP1	Louise Daugherty commented on gene: BRIP1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRIP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group J 609054; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	BRCA2	Louise Daugherty commented on gene: BRCA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group D1 605724; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	BRCA1	Louise Daugherty commented on gene: BRCA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.20	BLM	Louise Daugherty commented on gene: BLM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bloom syndrome 210900; PMID(s): none submitted
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	UBE2T	Steve Keeney reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group T, 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	TOP3A	Steve Keeney reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MGRISCE2 (Bloom-like syndrome) 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	SLX4	Steve Keeney reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group P, 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	RAD51C	Steve Keeney reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group O, 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	PALB2	Steve Keeney reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group N, 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	MAD2L2	Steve Keeney reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Fanconi anemia, complementation group V, 617243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCL	Steve Keeney reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group L, 614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCI	Steve Keeney reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group I, 609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCG	Steve Keeney reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group G, 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCF	Steve Keeney reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group F, 603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCE	Steve Keeney reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group E, 600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCD2	Steve Keeney reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group D2, 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCC	Steve Keeney reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group C, 227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCB	Steve Keeney reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group B, 300514, Fanconi Anemia, X-Linked, Fanconi Anemia Type B, Fanconi Anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	FANCA	Steve Keeney reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group A, 227650, Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	ERCC4	Steve Keeney reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	BRIP1	Steve Keeney reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group J, 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	BRCA2	Steve Keeney reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	BRCA1	Steve Keeney reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.19	BLM	Steve Keeney reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom syndrome, 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	UBE2T	Louise Daugherty Added phenotypes Fanconi anemia, complementation group T, 616435 for gene: UBE2T
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	TOP3A	Louise Daugherty Added phenotypes MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2 for gene: TOP3A
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	SLX4	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group P, 613951 for gene: SLX4
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	RAD51C	Louise Daugherty Added phenotypes Fanconi anemia, complementation group O, 613390 for gene: RAD51C
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	PALB2	Louise Daugherty Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	MAD2L2	Louise Daugherty Added phenotypes ?Fanconi anemia, complementation group V, 617243 for gene: MAD2L2
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCL	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group L, 614083 for gene: FANCL
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCI	Louise Daugherty Added phenotypes Fanconi anemia, complementation group I, 609053; Fanconi Anemia for gene: FANCI
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCG	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group G, 614082 for gene: FANCG
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCF	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group F, 603467 for gene: FANCF
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCE	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group E, 600901 for gene: FANCE
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCD2	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group D2, 227646 for gene: FANCD2
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCC	Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group C, 227645 for gene: FANCC
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCB	Louise Daugherty Added phenotypes Fanconi Anaemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	FANCA	Louise Daugherty Added phenotypes Fanconi anemia, complementation group A, 227650; Fanconi anemia for gene: FANCA
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	ERCC4	Louise Daugherty Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	BRIP1	Louise Daugherty Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	BRCA2	Louise Daugherty Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	BRCA1	Louise Daugherty Added phenotypes Fanconi anemia for gene: BRCA1
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.18	BLM	Louise Daugherty Added phenotypes Bloom syndrome, 210900 for gene: BLM
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	UBE2T	Louise Daugherty Source North West GLH was added to UBE2T.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	TOP3A	Louise Daugherty Source North West GLH was added to TOP3A.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	SLX4	Louise Daugherty Source North West GLH was added to SLX4.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	RAD51C	Louise Daugherty Source North West GLH was added to RAD51C.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	PALB2	Louise Daugherty Source North West GLH was added to PALB2.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	MAD2L2	Louise Daugherty Source North West GLH was added to MAD2L2.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCL	Louise Daugherty Source North West GLH was added to FANCL.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCI	Louise Daugherty Source North West GLH was added to FANCI.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCG	Louise Daugherty Source North West GLH was added to FANCG.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCF	Louise Daugherty Source North West GLH was added to FANCF.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCE	Louise Daugherty Source North West GLH was added to FANCE.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCD2	Louise Daugherty Source North West GLH was added to FANCD2.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCC	Louise Daugherty Source North West GLH was added to FANCC.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCB	Louise Daugherty Source North West GLH was added to FANCB.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	FANCA	Louise Daugherty Source North West GLH was added to FANCA.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	ERCC4	Louise Daugherty Source North West GLH was added to ERCC4.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	BRIP1	Louise Daugherty Source North West GLH was added to BRIP1.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	BRCA2	Louise Daugherty Source North West GLH was added to BRCA2.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	BRCA1	Louise Daugherty Source North West GLH was added to BRCA1.
18 Feb 2019	Fanconi anaemia or Bloom syndrome v0.16	BLM	Louise Daugherty Source North West GLH was added to BLM.
18 Feb 2019	Intellectual disability v2.670	MCM3AP	Ivone Leong Phenotypes for gene: MCM3AP were changed from Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124) to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
18 Feb 2019	Rare anaemia v0.28	YARS2	Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 613561; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TSR2	Louise Daugherty commented on gene: TSR2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TPI1	Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TMPRSS6	Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Iron-Refractory Iron Deficiency Anemia;Iron refractoryirondeficiencyanemia,206200; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TF	Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Atransferrinemia, 209300;Congenital hypotransferrinemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TCN2	Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SPTB	Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SPTA1	Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600;Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140;Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC4A1	Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Haemolytic Anemia;RBC membrane abnormality;Cryohydrocytosis,185020;Ovalocytosis, SA type, 166900;Spherocytosis, type 4, 612653; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC2A1	Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis; Pyridoxine-refractory sideroblastic anemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC25A38	Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory 205950; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC19A2	Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome 249270; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC11A2	Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, hypochromic microcytic, with iron overload 1 206100; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SEC23B	Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia;Anemia, dyserythropoieticcongenital, type II, 224100;ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SBDS	Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Shwachman-Diamond syndrome; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS7	Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 8, 612563;Diamond_Blackfan Anemia 8;DIAMOND-BLACKFAN ANEMIA 8; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS29	Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 13, 615909; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS27	Louise Daugherty commented on gene: RPS27: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 17, 617409; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS26	Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS24	Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-blackfan anemia 3, 610629;Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS19	Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS17	Louise Daugherty commented on gene: RPS17: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS17; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 4 612527; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS10	Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;Diamond_Blackfan Anemia 9;DIAMOND-BLACKFAN ANEMIA 9; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL9	Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL5	Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL35A	Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL15	Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: ?Diamond-Blackfan anemia 12 615550; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL11	Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 7, 612562;Diamond_Blackfan Anemia 7;DIAMOND-BLACKFAN ANEMIA 7; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RHAG	Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Stomatocytosis;Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000;Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PUS1	Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PKLR	Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency, 266200; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PIEZO1	Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis;Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Hereditary xerocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PFKM	Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Glycogen storage disease VII, 232800; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	NT5C3A	Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, hemolytic, due to UMPH1 deficiency, 266120; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	MTRR	Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, 236270; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	MTR	Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	LPIN2	Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome, 609628; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	KLF1	Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	KIF23	Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	KCNN4	Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Hereditary Xerocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HSPA9	Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HK1	Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to hexokinase deficiency, 235700; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBG2	Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBG1	Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Globin Disorder;Fetal hemoglobin quantitative trait locus 1, 141749; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBD	Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thalassemia, delta; Thalassemiadue to HbLepore; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBB	Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749;Erythremias, beta-;Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700;Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749;Methemoglobinemias, beta-;Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903;Thalassemia-beta, dominant inclusion-body, 603902;Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBA2	Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Erythrocytosis;Heinz body anemia,140700;Hemoglobin H disease, nondeletional, 613978;Hypochromic microcytic anemia;Thalassemia, alpha-, 60413; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBA1	Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Erythremias, alpha-;Heinz body anemias, alpha-, 140700;Hemoglobin H disease, nondeletional, 613978;Methemoglobinemias, alpha-;Thalassemias, alpha-, 604131; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GSS	Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GSR	Louise Daugherty commented on gene: GSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GPI	Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GLRX5	Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GCLC	Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	G6PD	Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	EPB42	Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	EPB41	Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	DHFR	Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CYB5R3	Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CUBN	Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	COX4I2	Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CDAN1	Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyserythropoietic anemia, congenital, type Ia 224120; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CD59	Louise Daugherty commented on gene: CD59: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CD59; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 305000 Dyskeratosis congenita, X-linked; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	C15orf41	Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15orf41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib 615631; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ANK1	Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Spherocytosis, type 1,182900; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	AMN	Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia-1, Norwegian type, 261100; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ALDOA	Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Glycogen storage disease;Glycogen storage disease XII, 611881;Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ALAS2	Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Anemia, sideroblastic, 1 300751; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	AK1	Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ABCG8	Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ABCG5	Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ABCB7	Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310; PMID(s): none submitted
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	XYLT2	Rebecca Foulger Source London North GLH was added to XYLT2.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	AGPS	Rebecca Foulger Source London North GLH was added to AGPS.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	TREX1	Rebecca Foulger Source London North GLH was added to TREX1.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	TMEM173	Rebecca Foulger Source London North GLH was added to TMEM173.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	STAT3	Rebecca Foulger Source London North GLH was added to STAT3.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	SLC39A4	Rebecca Foulger Source London North GLH was added to SLC39A4.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	SH3PXD2B	Rebecca Foulger Source London North GLH was added to SH3PXD2B.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	SAMHD1	Rebecca Foulger Source London North GLH was added to SAMHD1.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	RAG2	Rebecca Foulger Source London North GLH was added to RAG2.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	RAG1	Rebecca Foulger Source London North GLH was added to RAG1.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	OSMR	Rebecca Foulger Source London North GLH was added to OSMR.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	NSDHL	Rebecca Foulger Source London North GLH was added to NSDHL.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	NOD2	Rebecca Foulger Source London North GLH was added to NOD2.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	KRT10	Rebecca Foulger Source London North GLH was added to KRT10.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	KRT1	Rebecca Foulger Source London North GLH was added to KRT1.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	KIT	Rebecca Foulger Source London North GLH was added to KIT.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	IL36RN	Rebecca Foulger Source London North GLH was added to IL36RN.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	IL1RN	Rebecca Foulger Source London North GLH was added to IL1RN.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	IKBKG	Rebecca Foulger Source London North GLH was added to IKBKG.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	GJB4	Rebecca Foulger Source London North GLH was added to GJB4.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	GJB3	Rebecca Foulger Source London North GLH was added to GJB3.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	GJA1	Rebecca Foulger Source London North GLH was added to GJA1.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	FLG	Rebecca Foulger Source London North GLH was added to FLG.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	EDA	Rebecca Foulger Source London North GLH was added to EDA.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	DOCK8	Rebecca Foulger Source London North GLH was added to DOCK8.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	DCLRE1C	Rebecca Foulger Source London North GLH was added to DCLRE1C.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	CYBB	Rebecca Foulger Source London North GLH was added to CYBB.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	CSTA	Rebecca Foulger Source London North GLH was added to CSTA.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	CARD9	Rebecca Foulger Source London North GLH was added to CARD9.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	CARD14	Rebecca Foulger Source London North GLH was added to CARD14.
18 Feb 2019	Rare genetic inflammatory skin disorders v0.5	ADA2	Rebecca Foulger Source London North GLH was added to ADA2.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	TYRP1	Rebecca Foulger Source London North GLH was added to TYRP1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	TYR	Rebecca Foulger Source London North GLH was added to TYR.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	TERT	Rebecca Foulger Source London North GLH was added to TERT.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	SPRED1	Rebecca Foulger Source London North GLH was added to SPRED1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	SMO	Rebecca Foulger Source London North GLH was added to SMO.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	RASA1	Rebecca Foulger Source London North GLH was added to RASA1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	PTPN11	Rebecca Foulger Source London North GLH was added to PTPN11.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	PTEN	Rebecca Foulger Source London North GLH was added to PTEN.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	PIK3CA	Rebecca Foulger Source London North GLH was added to PIK3CA.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	NRAS	Rebecca Foulger Source London North GLH was added to NRAS.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	NOD2	Rebecca Foulger Source London North GLH was added to NOD2.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	NF1	Rebecca Foulger Source London North GLH was added to NF1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	NDUFB11	Rebecca Foulger Source London North GLH was added to NDUFB11.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	MVK	Rebecca Foulger Source London North GLH was added to MVK.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	MTOR	Rebecca Foulger Source London North GLH was added to MTOR.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	MAP3K3	Rebecca Foulger Source London North GLH was added to MAP3K3.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	MAP2K1	Rebecca Foulger Source London North GLH was added to MAP2K1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	KRT10	Rebecca Foulger Source London North GLH was added to KRT10.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	KRT1	Rebecca Foulger Source London North GLH was added to KRT1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	KRAS	Rebecca Foulger Source London North GLH was added to KRAS.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	KITLG	Rebecca Foulger Source London North GLH was added to KITLG.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	JAK2	Rebecca Foulger Source London North GLH was added to JAK2.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	IDH2	Rebecca Foulger Source London North GLH was added to IDH2.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	IDH1	Rebecca Foulger Source London North GLH was added to IDH1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	HRAS	Rebecca Foulger Source London North GLH was added to HRAS.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	HCCS	Rebecca Foulger Source London North GLH was added to HCCS.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	GNAS	Rebecca Foulger Source London North GLH was added to GNAS.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	GNAQ	Rebecca Foulger Source London North GLH was added to GNAQ.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	GNA14	Rebecca Foulger Source London North GLH was added to GNA14.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	GNA11	Rebecca Foulger Source London North GLH was added to GNA11.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	FGFR3	Rebecca Foulger Source London North GLH was added to FGFR3.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	FGFR1	Rebecca Foulger Source London North GLH was added to FGFR1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	COX7B	Rebecca Foulger Source London North GLH was added to COX7B.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	AKT3	Rebecca Foulger Source London North GLH was added to AKT3.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	AKT2	Rebecca Foulger Source London North GLH was added to AKT2.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	AKT1	Rebecca Foulger Source London North GLH was added to AKT1.
18 Feb 2019	Mosaic skin disorders - Deep sequencing v0.7	ACTB	Rebecca Foulger Source London North GLH was added to ACTB.
18 Feb 2019	Vascular skin disorders v0.5	VEGFA	Rebecca Foulger Source London North GLH was added to VEGFA.
18 Feb 2019	Vascular skin disorders v0.5	IDH2	Rebecca Foulger Source London North GLH was added to IDH2.
18 Feb 2019	Vascular skin disorders v0.5	IDH1	Rebecca Foulger Source London North GLH was added to IDH1.
18 Feb 2019	Vascular skin disorders v0.5	ANTXR1	Rebecca Foulger Source London North GLH was added to ANTXR1.
18 Feb 2019	Vascular skin disorders v0.5	AGGF1	Rebecca Foulger Source London North GLH was added to AGGF1.
18 Feb 2019	Vascular skin disorders v0.5	TMEM173	Rebecca Foulger Source London North GLH was added to TMEM173.
18 Feb 2019	Vascular skin disorders v0.5	TEK	Rebecca Foulger Source London North GLH was added to TEK.
18 Feb 2019	Vascular skin disorders v0.5	SOX18	Rebecca Foulger Source London North GLH was added to SOX18.
18 Feb 2019	Vascular skin disorders v0.5	SMAD4	Rebecca Foulger Source London North GLH was added to SMAD4.
18 Feb 2019	Vascular skin disorders v0.5	SCN9A	Rebecca Foulger Source London North GLH was added to SCN9A.
18 Feb 2019	Vascular skin disorders v0.5	RASA1	Rebecca Foulger Source London North GLH was added to RASA1.
18 Feb 2019	Vascular skin disorders v0.5	PIK3R2	Rebecca Foulger Source London North GLH was added to PIK3R2.
18 Feb 2019	Vascular skin disorders v0.5	PIK3CA	Rebecca Foulger Source London North GLH was added to PIK3CA.
18 Feb 2019	Vascular skin disorders v0.5	KRIT1	Rebecca Foulger Source London North GLH was added to KRIT1.
18 Feb 2019	Vascular skin disorders v0.5	KDR	Rebecca Foulger Source London North GLH was added to KDR.
18 Feb 2019	Vascular skin disorders v0.5	GNAQ	Rebecca Foulger Source London North GLH was added to GNAQ.
18 Feb 2019	Vascular skin disorders v0.5	GNA11	Rebecca Foulger Source London North GLH was added to GNA11.
18 Feb 2019	Vascular skin disorders v0.5	GLMN	Rebecca Foulger Source London North GLH was added to GLMN.
18 Feb 2019	Vascular skin disorders v0.5	FOXC2	Rebecca Foulger Source London North GLH was added to FOXC2.
18 Feb 2019	Vascular skin disorders v0.5	FLT4	Rebecca Foulger Source London North GLH was added to FLT4.
18 Feb 2019	Vascular skin disorders v0.5	F12	Rebecca Foulger Source London North GLH was added to F12.
18 Feb 2019	Vascular skin disorders v0.5	EPHB4	Rebecca Foulger Source London North GLH was added to EPHB4.
18 Feb 2019	Vascular skin disorders v0.5	ENG	Rebecca Foulger Source London North GLH was added to ENG.
18 Feb 2019	Vascular skin disorders v0.5	CCBE1	Rebecca Foulger Source London North GLH was added to CCBE1.
18 Feb 2019	Vascular skin disorders v0.5	ATR	Rebecca Foulger Source London North GLH was added to ATR.
18 Feb 2019	Vascular skin disorders v0.5	ATM	Rebecca Foulger Source London North GLH was added to ATM.
18 Feb 2019	Vascular skin disorders v0.5	ACVRL1	Rebecca Foulger Source London North GLH was added to ACVRL1.
18 Feb 2019	Epidermodysplasia verruciformis v0.5	TMC8	Rebecca Foulger Source London North GLH was added to TMC8.
18 Feb 2019	Epidermodysplasia verruciformis v0.5	TMC6	Rebecca Foulger Source London North GLH was added to TMC6.
18 Feb 2019	Epidermodysplasia verruciformis v0.5	CIB1	Rebecca Foulger Source London North GLH was added to CIB1.
18 Feb 2019	Pigmentary skin disorders v0.8	VDR	Rebecca Foulger Source London North GLH was added to VDR.
18 Feb 2019	Pigmentary skin disorders v0.8	OFD1	Rebecca Foulger Source London North GLH was added to OFD1.
18 Feb 2019	Pigmentary skin disorders v0.8	NOP10	Rebecca Foulger Source London North GLH was added to NOP10.
18 Feb 2019	Pigmentary skin disorders v0.8	IRF4	Rebecca Foulger Source London North GLH was added to IRF4.
18 Feb 2019	Pigmentary skin disorders v0.8	FLNA	Rebecca Foulger Source London North GLH was added to FLNA.
18 Feb 2019	Pigmentary skin disorders v0.8	BNC2	Rebecca Foulger Source London North GLH was added to BNC2.
18 Feb 2019	Pigmentary skin disorders v0.8	ASIP	Rebecca Foulger Source London North GLH was added to ASIP.
18 Feb 2019	Pigmentary skin disorders v0.8	WRAP53	Rebecca Foulger Source London North GLH was added to WRAP53.
18 Feb 2019	Pigmentary skin disorders v0.8	USB1	Rebecca Foulger Source London North GLH was added to USB1.
18 Feb 2019	Pigmentary skin disorders v0.8	TYRP1	Rebecca Foulger Source London North GLH was added to TYRP1.
18 Feb 2019	Pigmentary skin disorders v0.8	TYR	Rebecca Foulger Source London North GLH was added to TYR.
18 Feb 2019	Pigmentary skin disorders v0.8	TSC2	Rebecca Foulger Source London North GLH was added to TSC2.
18 Feb 2019	Pigmentary skin disorders v0.8	TSC1	Rebecca Foulger Source London North GLH was added to TSC1.
18 Feb 2019	Pigmentary skin disorders v0.8	TMC8	Rebecca Foulger Source London North GLH was added to TMC8.
18 Feb 2019	Pigmentary skin disorders v0.8	TMC6	Rebecca Foulger Source London North GLH was added to TMC6.
18 Feb 2019	Pigmentary skin disorders v0.8	TINF2	Rebecca Foulger Source London North GLH was added to TINF2.
18 Feb 2019	Pigmentary skin disorders v0.8	TERT	Rebecca Foulger Source London North GLH was added to TERT.
18 Feb 2019	Pigmentary skin disorders v0.8	TERC	Rebecca Foulger Source London North GLH was added to TERC.
18 Feb 2019	Pigmentary skin disorders v0.8	STK11	Rebecca Foulger Source London North GLH was added to STK11.
18 Feb 2019	Pigmentary skin disorders v0.8	SPRED1	Rebecca Foulger Source London North GLH was added to SPRED1.
18 Feb 2019	Pigmentary skin disorders v0.8	SOX18	Rebecca Foulger Source London North GLH was added to SOX18.
18 Feb 2019	Pigmentary skin disorders v0.8	SOX10	Rebecca Foulger Source London North GLH was added to SOX10.
18 Feb 2019	Pigmentary skin disorders v0.8	SOS1	Rebecca Foulger Source London North GLH was added to SOS1.
18 Feb 2019	Pigmentary skin disorders v0.8	SNAI2	Rebecca Foulger Source London North GLH was added to SNAI2.
18 Feb 2019	Pigmentary skin disorders v0.8	SLX4	Rebecca Foulger Source London North GLH was added to SLX4.
18 Feb 2019	Pigmentary skin disorders v0.8	SLC45A2	Rebecca Foulger Source London North GLH was added to SLC45A2.
18 Feb 2019	Pigmentary skin disorders v0.8	SLC29A3	Rebecca Foulger Source London North GLH was added to SLC29A3.
18 Feb 2019	Pigmentary skin disorders v0.8	SLC24A5	Rebecca Foulger Source London North GLH was added to SLC24A5.
18 Feb 2019	Pigmentary skin disorders v0.8	SHOC2	Rebecca Foulger Source London North GLH was added to SHOC2.
18 Feb 2019	Pigmentary skin disorders v0.8	SASH1	Rebecca Foulger Source London North GLH was added to SASH1.
18 Feb 2019	Pigmentary skin disorders v0.8	SAMD9	Rebecca Foulger Source London North GLH was added to SAMD9.
18 Feb 2019	Pigmentary skin disorders v0.8	RIT1	Rebecca Foulger Source London North GLH was added to RIT1.
18 Feb 2019	Pigmentary skin disorders v0.8	RECQL4	Rebecca Foulger Source London North GLH was added to RECQL4.
18 Feb 2019	Pigmentary skin disorders v0.8	RAF1	Rebecca Foulger Source London North GLH was added to RAF1.
18 Feb 2019	Pigmentary skin disorders v0.8	RAB27A	Rebecca Foulger Source London North GLH was added to RAB27A.
18 Feb 2019	Pigmentary skin disorders v0.8	PTPN11	Rebecca Foulger Source London North GLH was added to PTPN11.
18 Feb 2019	Pigmentary skin disorders v0.8	PTEN	Rebecca Foulger Source London North GLH was added to PTEN.
18 Feb 2019	Pigmentary skin disorders v0.8	PSENEN	Rebecca Foulger Source London North GLH was added to PSENEN.
18 Feb 2019	Pigmentary skin disorders v0.8	PRKAR1A	Rebecca Foulger Source London North GLH was added to PRKAR1A.
18 Feb 2019	Pigmentary skin disorders v0.8	PORCN	Rebecca Foulger Source London North GLH was added to PORCN.
18 Feb 2019	Pigmentary skin disorders v0.8	POGLUT1	Rebecca Foulger Source London North GLH was added to POGLUT1.
18 Feb 2019	Pigmentary skin disorders v0.8	POFUT1	Rebecca Foulger Source London North GLH was added to POFUT1.
18 Feb 2019	Pigmentary skin disorders v0.8	PMS2	Rebecca Foulger Source London North GLH was added to PMS2.
18 Feb 2019	Pigmentary skin disorders v0.8	PIK3CA	Rebecca Foulger Source London North GLH was added to PIK3CA.
18 Feb 2019	Pigmentary skin disorders v0.8	PAX3	Rebecca Foulger Source London North GLH was added to PAX3.
18 Feb 2019	Pigmentary skin disorders v0.8	PALB2	Rebecca Foulger Source London North GLH was added to PALB2.
18 Feb 2019	Pigmentary skin disorders v0.8	OSMR	Rebecca Foulger Source London North GLH was added to OSMR.
18 Feb 2019	Pigmentary skin disorders v0.8	OCA2	Rebecca Foulger Source London North GLH was added to OCA2.
18 Feb 2019	Pigmentary skin disorders v0.8	NRAS	Rebecca Foulger Source London North GLH was added to NRAS.
18 Feb 2019	Pigmentary skin disorders v0.8	NF2	Rebecca Foulger Source London North GLH was added to NF2.
18 Feb 2019	Pigmentary skin disorders v0.8	NF1	Rebecca Foulger Source London North GLH was added to NF1.
18 Feb 2019	Pigmentary skin disorders v0.8	MYO5A	Rebecca Foulger Source London North GLH was added to MYO5A.
18 Feb 2019	Pigmentary skin disorders v0.8	MTOR	Rebecca Foulger Source London North GLH was added to MTOR.
18 Feb 2019	Pigmentary skin disorders v0.8	MSH6	Rebecca Foulger Source London North GLH was added to MSH6.
18 Feb 2019	Pigmentary skin disorders v0.8	MSH2	Rebecca Foulger Source London North GLH was added to MSH2.
18 Feb 2019	Pigmentary skin disorders v0.8	MLH1	Rebecca Foulger Source London North GLH was added to MLH1.
18 Feb 2019	Pigmentary skin disorders v0.8	MITF	Rebecca Foulger Source London North GLH was added to MITF.
18 Feb 2019	Pigmentary skin disorders v0.8	MC1R	Rebecca Foulger Source London North GLH was added to MC1R.
18 Feb 2019	Pigmentary skin disorders v0.8	MAP2K2	Rebecca Foulger Source London North GLH was added to MAP2K2.
18 Feb 2019	Pigmentary skin disorders v0.8	LYST	Rebecca Foulger Source London North GLH was added to LYST.
18 Feb 2019	Pigmentary skin disorders v0.8	KRT5	Rebecca Foulger Source London North GLH was added to KRT5.
18 Feb 2019	Pigmentary skin disorders v0.8	KRT14	Rebecca Foulger Source London North GLH was added to KRT14.
18 Feb 2019	Pigmentary skin disorders v0.8	KRT10	Rebecca Foulger Source London North GLH was added to KRT10.
18 Feb 2019	Pigmentary skin disorders v0.8	KRAS	Rebecca Foulger Source London North GLH was added to KRAS.
18 Feb 2019	Pigmentary skin disorders v0.8	KITLG	Rebecca Foulger Source London North GLH was added to KITLG.
18 Feb 2019	Pigmentary skin disorders v0.8	KIT	Rebecca Foulger Source London North GLH was added to KIT.
18 Feb 2019	Pigmentary skin disorders v0.8	HRAS	Rebecca Foulger Source London North GLH was added to HRAS.
18 Feb 2019	Pigmentary skin disorders v0.8	HPS1	Rebecca Foulger Source London North GLH was added to HPS1.
18 Feb 2019	Pigmentary skin disorders v0.8	GPNMB	Rebecca Foulger Source London North GLH was added to GPNMB.
18 Feb 2019	Pigmentary skin disorders v0.8	GNAS	Rebecca Foulger Source London North GLH was added to GNAS.
18 Feb 2019	Pigmentary skin disorders v0.8	GNAQ	Rebecca Foulger Source London North GLH was added to GNAQ.
18 Feb 2019	Pigmentary skin disorders v0.8	GNA11	Rebecca Foulger Source London North GLH was added to GNA11.
18 Feb 2019	Pigmentary skin disorders v0.8	GJB4	Rebecca Foulger Source London North GLH was added to GJB4.
18 Feb 2019	Pigmentary skin disorders v0.8	GJB3	Rebecca Foulger Source London North GLH was added to GJB3.
18 Feb 2019	Pigmentary skin disorders v0.8	GJA1	Rebecca Foulger Source London North GLH was added to GJA1.
18 Feb 2019	Pigmentary skin disorders v0.8	GALNT3	Rebecca Foulger Source London North GLH was added to GALNT3.
18 Feb 2019	Pigmentary skin disorders v0.8	FGF23	Rebecca Foulger Source London North GLH was added to FGF23.
18 Feb 2019	Pigmentary skin disorders v0.8	FAM111B	Rebecca Foulger Source London North GLH was added to FAM111B.
18 Feb 2019	Pigmentary skin disorders v0.8	ENPP1	Rebecca Foulger Source London North GLH was added to ENPP1.
18 Feb 2019	Pigmentary skin disorders v0.8	EDNRB	Rebecca Foulger Source London North GLH was added to EDNRB.
18 Feb 2019	Pigmentary skin disorders v0.8	EDN3	Rebecca Foulger Source London North GLH was added to EDN3.
18 Feb 2019	Pigmentary skin disorders v0.8	DKC1	Rebecca Foulger Source London North GLH was added to DKC1.
18 Feb 2019	Pigmentary skin disorders v0.8	CIB1	Rebecca Foulger Source London North GLH was added to CIB1.
18 Feb 2019	Pigmentary skin disorders v0.8	CDKN2A	Rebecca Foulger Source London North GLH was added to CDKN2A.
18 Feb 2019	Pigmentary skin disorders v0.8	CDK4	Rebecca Foulger Source London North GLH was added to CDK4.
18 Feb 2019	Pigmentary skin disorders v0.8	CBL	Rebecca Foulger Source London North GLH was added to CBL.
18 Feb 2019	Pigmentary skin disorders v0.8	BRAF	Rebecca Foulger Source London North GLH was added to BRAF.
18 Feb 2019	Pigmentary skin disorders v0.8	BAP1	Rebecca Foulger Source London North GLH was added to BAP1.
18 Feb 2019	Pigmentary skin disorders v0.8	ARSE	Rebecca Foulger Source London North GLH was added to ARSE.
18 Feb 2019	Pigmentary skin disorders v0.8	AP3B1	Rebecca Foulger Source London North GLH was added to AP3B1.
18 Feb 2019	Pigmentary skin disorders v0.8	ADAR	Rebecca Foulger Source London North GLH was added to ADAR.
18 Feb 2019	Pigmentary skin disorders v0.8	ADAM10	Rebecca Foulger Source London North GLH was added to ADAM10.
18 Feb 2019	Pigmentary skin disorders v0.8	ABCD4	Rebecca Foulger Source London North GLH was added to ABCD4.
18 Feb 2019	Pigmentary skin disorders v0.8	ABCB6	Rebecca Foulger Source London North GLH was added to ABCB6.
18 Feb 2019	Rare anaemia v0.27	YARS2	Steve Keeney reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TSR2	Steve Keeney reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.27	TPI1	Steve Keeney reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512, Enzyme Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TMPRSS6	Steve Keeney reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Iron-Refractory Iron Deficiency Anemia, Iron refractoryirondeficiencyanemia,206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TF	Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atransferrinemia, 209300, Congenital hypotransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TCN2	Steve Keeney reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Transcobalamin II deficiency, can have a presentation similar to severe combined immunodeficiency, pancytopenia, neutropenic colitis, Agammaglobulinemia, megaloblastic bone marrow, thrombocytopenia, neutropenia, failure to thrive, hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SPTB	Steve Keeney reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis,616649, Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SPTA1	Steve Keeney reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600, Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140, Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SLC4A1	Steve Keeney reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemolytic Anemia, RBC membrane abnormality, Cryohydrocytosis,185020, Ovalocytosis, SA type, 166900, Spherocytosis, type 4, 612653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	SLC2A1	Steve Keeney reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Pyridoxine-refractory sideroblastic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	SLC25A38	Steve Keeney reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SLC19A2	Steve Keeney reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SLC11A2	Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, hypochromic microcytic, with iron overload 1, 206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SEC23B	Steve Keeney reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital dyserythropoietic anemia type II, Congenital Dyserythropoietic Anemia, Anemia, dyserythropoieticcongenital, type II, 224100, ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SBDS	Steve Keeney reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	RPS7	Steve Keeney reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 8, 612563, Diamond_Blackfan Anemia 8, DIAMOND-BLACKFAN ANEMIA 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS29	Steve Keeney reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 13, 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPS27	Steve Keeney reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia, ?Diamond-Blackfan anemia 17, 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPS26	Steve Keeney reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 10, 613309, Diamond_Blackfan Anemia 10, Diamond-Blackfan anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS24	Steve Keeney reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-blackfan anemia 3, 610629, Diamond-Blackfan Anemia 3, DIAMOND-BLACKFAN ANEMIA 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS19	Steve Keeney reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 1, 105650, Diamond-Blackfan Anemia, DIAMOND-BLACKFAN ANEMIA 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS17	Steve Keeney reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 4, 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPS10	Steve Keeney reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 9, 613308, Diamond-Blackfan Anemia 9, DIAMOND-BLACKFAN ANEMIA 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPL9	Steve Keeney reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPL5	Steve Keeney reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 6, 612561, Diamond-Blackfan Anemia 6, DIAMOND-BLACKFAN ANEMIA 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPL35A	Steve Keeney reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 5, 612528, Diamond-Blackfan Anemia 5, DIAMOND-BLACKFAN ANEMIA 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPL15	Steve Keeney reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 12, 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPL11	Steve Keeney reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 7, 612562, Diamond-Blackfan Anemia 7, DIAMOND-BLACKFAN ANEMIA 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RHAG	Steve Keeney reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000, Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	PUS1	Steve Keeney reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	PKLR	Steve Keeney reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE KINASE DEFICIENCY, Enzyme Disorder, Pyruvate kinase deficiency, 266200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	PIEZO1	Steve Keeney reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Hereditary xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	PFKM	Steve Keeney reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease VII, 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	NT5C3A	Steve Keeney reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, hemolytic, due to UMPH1 deficiency, 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	MTRR	Steve Keeney reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	MTR	Steve Keeney reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	LPIN2	Steve Keeney reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome, 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	KLF1	Steve Keeney reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	KIF23	Steve Keeney reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	KCNN4	Steve Keeney reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	HSPA9	Steve Keeney reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic anaemia type 4, 182170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	HK1	Steve Keeney reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to hexokinase deficiency, 235700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	HBG2	Steve Keeney reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Cyanosis, transient neonatal, 613977, Fetal hemoglobin quantitative trait locus 1,141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBG1	Steve Keeney reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Fetal hemoglobin quantitative trait locus 1, 141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBD	Steve Keeney reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thalassemia, delta, Thalassemiadue to HbLepore; Mode of inheritance: Unknown; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBB	Steve Keeney reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749, Erythremias, beta-, Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700, Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749, Methemoglobinemias, beta-, Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903, Thalassemia-beta, dominant inclusion-body, 603902, Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBA2	Steve Keeney reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythrocytosis, Heinz body anemia,140700, Hemoglobin H disease, nondeletional, 613978, Hypochromic microcytic anemia, Thalassemia, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBA1	Steve Keeney reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythremias, alpha-, Heinz body anemias, alpha-, 140700, Hemoglobin H disease, nondeletional, 613978, Methemoglobinemias, alpha-, Thalassemias, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	GSS	Steve Keeney reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 231900, Glutathione synthetase deficiency, 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GSR	Steve Keeney reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
18 Feb 2019	Rare anaemia v0.27	GPI	Steve Keeney reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GLRX5	Steve Keeney reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GCLC	Steve Keeney reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450, Glutamate-cysteine ligase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GATA1	Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric, Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.27	G6PD	Steve Keeney reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908, Enzyme Disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
18 Feb 2019	Rare anaemia v0.27	EPB42	Steve Keeney reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis, type 5, 612690, Hereditary spherocytosis type 5, Minkowski-Chauffard disease, Spherocytosis, Recessive, EPB42-related hereditary spherocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	EPB41	Steve Keeney reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Elliptocytosis-1,611804, Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	DHFR	Steve Keeney reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CYB5R3	Steve Keeney reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methaemoglobinaemia type I and II, 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CUBN	Steve Keeney reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, 261100, Megaloblastic Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	COX4I2	Steve Keeney reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CDAN1	Steve Keeney reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CD59	Steve Keeney reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: 24382084, 23149847, 1382994; Phenotypes: Dyskeratosis congenita, X-linked, 305000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	C15orf41	Steve Keeney reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib, 615631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ANK1	Steve Keeney reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Spherocytosis, type 1,182900; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	AMN	Steve Keeney reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia-1, Norwegian type, 261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ALDOA	Steve Keeney reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Glycogen storage disease, Glycogen storage disease XII, 611881, Aldolase A deficiency, Glycogen storage disease due to aldolase A deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ALAS2	Steve Keeney reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 1, 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.27	AK1	Steve Keeney reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211224; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ABCG8	Steve Keeney reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ABCG5	Steve Keeney reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ABCB7	Steve Keeney reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic Anemia and Ataxia, Anemia, sideroblastic, with ataxia, 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	VDR	Rebecca Foulger Source London North GLH was added to VDR.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	SASH1	Rebecca Foulger Source London North GLH was added to SASH1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	TSC2	Rebecca Foulger Source London North GLH was added to TSC2.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	TSC1	Rebecca Foulger Source London North GLH was added to TSC1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	TMC8	Rebecca Foulger Source London North GLH was added to TMC8.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	TMC6	Rebecca Foulger Source London North GLH was added to TMC6.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	SUFU	Rebecca Foulger Source London North GLH was added to SUFU.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	STK11	Rebecca Foulger Source London North GLH was added to STK11.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	SAMD9	Rebecca Foulger Source London North GLH was added to SAMD9.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PTEN	Rebecca Foulger Source London North GLH was added to PTEN.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PTCH2	Rebecca Foulger Source London North GLH was added to PTCH2.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PTCH1	Rebecca Foulger Source London North GLH was added to PTCH1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PRKAR1A	Rebecca Foulger Source London North GLH was added to PRKAR1A.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PORCN	Rebecca Foulger Source London North GLH was added to PORCN.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PIK3CA	Rebecca Foulger Source London North GLH was added to PIK3CA.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	PDGFRB	Rebecca Foulger Source London North GLH was added to PDGFRB.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	NRAS	Rebecca Foulger Source London North GLH was added to NRAS.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	NF1	Rebecca Foulger Source London North GLH was added to NF1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	MC1R	Rebecca Foulger Source London North GLH was added to MC1R.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	LEMD3	Rebecca Foulger Source London North GLH was added to LEMD3.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	LEF1	Rebecca Foulger Source London North GLH was added to LEF1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	KRT17	Rebecca Foulger Source London North GLH was added to KRT17.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	KRAS	Rebecca Foulger Source London North GLH was added to KRAS.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	JAK2	Rebecca Foulger Source London North GLH was added to JAK2.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	IRF4	Rebecca Foulger Source London North GLH was added to IRF4.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	HRAS	Rebecca Foulger Source London North GLH was added to HRAS.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	GLA	Rebecca Foulger Source London North GLH was added to GLA.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	GALNT3	Rebecca Foulger Source London North GLH was added to GALNT3.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	FLCN	Rebecca Foulger Source London North GLH was added to FLCN.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	FGFR3	Rebecca Foulger Source London North GLH was added to FGFR3.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	FGFR2	Rebecca Foulger Source London North GLH was added to FGFR2.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	FGF23	Rebecca Foulger Source London North GLH was added to FGF23.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	CYLD	Rebecca Foulger Source London North GLH was added to CYLD.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	CTNNB1	Rebecca Foulger Source London North GLH was added to CTNNB1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	CIB1	Rebecca Foulger Source London North GLH was added to CIB1.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	CDKN2A	Rebecca Foulger Source London North GLH was added to CDKN2A.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	CDK4	Rebecca Foulger Source London North GLH was added to CDK4.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	BRAF	Rebecca Foulger Source London North GLH was added to BRAF.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	APC	Rebecca Foulger Source London North GLH was added to APC.
18 Feb 2019	Multiple monogenic benign skin tumours v0.5	ACTRT1	Rebecca Foulger Source London North GLH was added to ACTRT1.
18 Feb 2019	Autosomal recessive primary hypertrophic osteoarthropathy v0.7	SLCO2A1	Rebecca Foulger Source London North GLH was added to SLCO2A1.
18 Feb 2019	Autosomal recessive primary hypertrophic osteoarthropathy v0.7	HPGD	Rebecca Foulger Source London North GLH was added to HPGD.
18 Feb 2019	Rare anaemia v0.26	YARS2	Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
18 Feb 2019	Rare anaemia v0.26	TSR2	Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2
18 Feb 2019	Rare anaemia v0.26	TPI1	Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1
18 Feb 2019	Rare anaemia v0.26	TMPRSS6	Louise Daugherty Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia for gene: TMPRSS6
18 Feb 2019	Rare anaemia v0.26	TF	Louise Daugherty Added phenotypes Atransferrinemia, 209300; Congenital hypotransferrinemia for gene: TF
18 Feb 2019	Rare anaemia v0.26	TCN2	Louise Daugherty Added phenotypes megaloblastic bone marrow; failure to thrive; pancytopenia; neutropenic colitis; thrombocytopenia; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia for gene: TCN2
18 Feb 2019	Rare anaemia v0.26	SPTB	Louise Daugherty Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB
18 Feb 2019	Rare anaemia v0.26	SPTA1	Louise Daugherty Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1
18 Feb 2019	Rare anaemia v0.26	SLC4A1	Louise Daugherty Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1
18 Feb 2019	Rare anaemia v0.26	SLC2A1	Louise Daugherty Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1
18 Feb 2019	Rare anaemia v0.26	SLC25A38	Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
18 Feb 2019	Rare anaemia v0.26	SLC19A2	Louise Daugherty Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2
18 Feb 2019	Rare anaemia v0.26	SLC11A2	Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
18 Feb 2019	Rare anaemia v0.26	SEC23B	Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100 for gene: SEC23B
18 Feb 2019	Rare anaemia v0.26	SBDS	Louise Daugherty Added phenotypes Shwachman-Diamond syndrome for gene: SBDS
18 Feb 2019	Rare anaemia v0.26	RPS7	Louise Daugherty Added phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7
18 Feb 2019	Rare anaemia v0.26	RPS29	Louise Daugherty Added phenotypes Diamond-Blackfan anemia 13, 615909 for gene: RPS29
18 Feb 2019	Rare anaemia v0.26	RPS27	Louise Daugherty Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
18 Feb 2019	Rare anaemia v0.26	RPS26	Louise Daugherty Added phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26
18 Feb 2019	Rare anaemia v0.26	RPS24	Louise Daugherty Added phenotypes Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia 3; Diamond Blackfan anemia for gene: RPS24
18 Feb 2019	Rare anaemia v0.26	RPS19	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia for gene: RPS19
18 Feb 2019	Rare anaemia v0.26	RPS17	Louise Daugherty Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
18 Feb 2019	Rare anaemia v0.26	RPS10	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10
18 Feb 2019	Rare anaemia v0.26	RPL9	Louise Daugherty Added phenotypes Diamond-Blackfan anemia for gene: RPL9
18 Feb 2019	Rare anaemia v0.26	RPL5	Louise Daugherty Added phenotypes Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5
18 Feb 2019	Rare anaemia v0.26	RPL35A	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 5; Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL35A
18 Feb 2019	Rare anaemia v0.26	RPL15	Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15
18 Feb 2019	Rare anaemia v0.26	RPL11	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11
18 Feb 2019	Rare anaemia v0.26	RHAG	Louise Daugherty Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG
18 Feb 2019	Rare anaemia v0.26	PUS1	Louise Daugherty Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1
18 Feb 2019	Rare anaemia v0.26	PKLR	Louise Daugherty Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR
18 Feb 2019	Rare anaemia v0.26	PIEZO1	Louise Daugherty Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1
18 Feb 2019	Rare anaemia v0.26	PFKM	Louise Daugherty Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
18 Feb 2019	Rare anaemia v0.26	NT5C3A	Louise Daugherty Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 for gene: NT5C3A
18 Feb 2019	Rare anaemia v0.26	MTRR	Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
18 Feb 2019	Rare anaemia v0.26	MTR	Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
18 Feb 2019	Rare anaemia v0.26	LPIN2	Louise Daugherty Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
18 Feb 2019	Rare anaemia v0.26	KLF1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
18 Feb 2019	Rare anaemia v0.26	KIF23	Louise Daugherty Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
18 Feb 2019	Rare anaemia v0.26	KCNN4	Louise Daugherty Added phenotypes Hereditary Xerocytosis for gene: KCNN4
18 Feb 2019	Rare anaemia v0.26	HSPA9	Louise Daugherty Added phenotypes Sideroblastic anaemia type 4, 182170 for gene: HSPA9
18 Feb 2019	Rare anaemia v0.26	HK1	Louise Daugherty Added phenotypes Hemolytic anemia due to hexokinase deficiency, 235700; Enzyme Disorder for gene: HK1
18 Feb 2019	Rare anaemia v0.26	HBG2	Louise Daugherty Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2
18 Feb 2019	Rare anaemia v0.26	HBG1	Louise Daugherty Added phenotypes Fetal hemoglobin quantitative trait locus 1, 141749; Globin Disorder for gene: HBG1
18 Feb 2019	Rare anaemia v0.26	HBD	Louise Daugherty Added phenotypes Thalassemiadue to HbLepore; Thalassemia, delta for gene: HBD
18 Feb 2019	Rare anaemia v0.26	HBB	Louise Daugherty Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749 for gene: HBB
18 Feb 2019	Rare anaemia v0.26	HBA2	Louise Daugherty Added phenotypes Hypochromic microcytic anemia; Heinz body anemia,140700; Globin Disorder; Erythrocytosis; Thalassemia, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978 for gene: HBA2
18 Feb 2019	Rare anaemia v0.26	HBA1	Louise Daugherty Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1
18 Feb 2019	Rare anaemia v0.26	GSS	Louise Daugherty Added phenotypes Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS
18 Feb 2019	Rare anaemia v0.26	GSR	Louise Daugherty Added phenotypes NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency for gene: GSR
18 Feb 2019	Rare anaemia v0.26	GPI	Louise Daugherty Added phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI
18 Feb 2019	Rare anaemia v0.26	GLRX5	Louise Daugherty Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5
18 Feb 2019	Rare anaemia v0.26	GCLC	Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC
18 Feb 2019	Rare anaemia v0.26	GATA1	Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
18 Feb 2019	Rare anaemia v0.26	G6PD	Louise Daugherty Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD
18 Feb 2019	Rare anaemia v0.26	EPB42	Louise Daugherty Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42
18 Feb 2019	Rare anaemia v0.26	EPB41	Louise Daugherty Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41
18 Feb 2019	Rare anaemia v0.26	DHFR	Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
18 Feb 2019	Rare anaemia v0.26	CYB5R3	Louise Daugherty Added phenotypes Methaemoglobinaemia type I and II, 250800 for gene: CYB5R3
18 Feb 2019	Rare anaemia v0.26	CUBN	Louise Daugherty Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia for gene: CUBN
18 Feb 2019	Rare anaemia v0.26	COX4I2	Louise Daugherty Added phenotypes Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 for gene: COX4I2
18 Feb 2019	Rare anaemia v0.26	CDAN1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
18 Feb 2019	Rare anaemia v0.26	CD59	Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: CD59 Publications for gene CD59 were changed from to 1382994; 23149847; 24382084
18 Feb 2019	Rare anaemia v0.26	C15orf41	Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
18 Feb 2019	Rare anaemia v0.26	ANK1	Louise Daugherty Added phenotypes RBC membrane abnormality; Spherocytosis, type 1,182900 for gene: ANK1
18 Feb 2019	Rare anaemia v0.26	AMN	Louise Daugherty Added phenotypes Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
18 Feb 2019	Rare anaemia v0.26	ALDOA	Louise Daugherty Added phenotypes Aldolase A deficiency; Glycogen storage disease XII, 611881; Glycogen storage disease; Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder for gene: ALDOA
18 Feb 2019	Rare anaemia v0.26	ALAS2	Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751 for gene: ALAS2
18 Feb 2019	Rare anaemia v0.26	AK1	Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Publications for gene AK1 were changed from 10233365; 9432020; 12649162 to 28211224
18 Feb 2019	Rare anaemia v0.26	ABCG8	Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG8
18 Feb 2019	Rare anaemia v0.26	ABCG5	Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG5
18 Feb 2019	Rare anaemia v0.26	ABCB7	Louise Daugherty Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
18 Feb 2019	Palmoplantar keratodermas v0.5	SASH1	Rebecca Foulger Source London North GLH was added to SASH1.
18 Feb 2019	Palmoplantar keratodermas v0.5	PKP2	Rebecca Foulger Source London North GLH was added to PKP2.
18 Feb 2019	Palmoplantar keratodermas v0.5	PERP	Rebecca Foulger Source London North GLH was added to PERP.
18 Feb 2019	Palmoplantar keratodermas v0.5	FAM83G	Rebecca Foulger Source London North GLH was added to FAM83G.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSG2	Rebecca Foulger Source London North GLH was added to DSG2.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSC1	Rebecca Foulger Source London North GLH was added to DSC1.
18 Feb 2019	Palmoplantar keratodermas v0.5	VPS33B	Rebecca Foulger Source London North GLH was added to VPS33B.
18 Feb 2019	Palmoplantar keratodermas v0.5	TRPV3	Rebecca Foulger Source London North GLH was added to TRPV3.
18 Feb 2019	Palmoplantar keratodermas v0.5	TGM1	Rebecca Foulger Source London North GLH was added to TGM1.
18 Feb 2019	Palmoplantar keratodermas v0.5	SULT2B1	Rebecca Foulger Source London North GLH was added to SULT2B1.
18 Feb 2019	Palmoplantar keratodermas v0.5	STS	Rebecca Foulger Source London North GLH was added to STS.
18 Feb 2019	Palmoplantar keratodermas v0.5	ST14	Rebecca Foulger Source London North GLH was added to ST14.
18 Feb 2019	Palmoplantar keratodermas v0.5	SPINK5	Rebecca Foulger Source London North GLH was added to SPINK5.
18 Feb 2019	Palmoplantar keratodermas v0.5	SNAP29	Rebecca Foulger Source London North GLH was added to SNAP29.
18 Feb 2019	Palmoplantar keratodermas v0.5	SLURP1	Rebecca Foulger Source London North GLH was added to SLURP1.
18 Feb 2019	Palmoplantar keratodermas v0.5	SLC27A4	Rebecca Foulger Source London North GLH was added to SLC27A4.
18 Feb 2019	Palmoplantar keratodermas v0.5	SERPINB7	Rebecca Foulger Source London North GLH was added to SERPINB7.
18 Feb 2019	Palmoplantar keratodermas v0.5	SDR9C7	Rebecca Foulger Source London North GLH was added to SDR9C7.
18 Feb 2019	Palmoplantar keratodermas v0.5	RSPO1	Rebecca Foulger Source London North GLH was added to RSPO1.
18 Feb 2019	Palmoplantar keratodermas v0.5	RHBDF2	Rebecca Foulger Source London North GLH was added to RHBDF2.
18 Feb 2019	Palmoplantar keratodermas v0.5	POMP	Rebecca Foulger Source London North GLH was added to POMP.
18 Feb 2019	Palmoplantar keratodermas v0.5	PNPLA1	Rebecca Foulger Source London North GLH was added to PNPLA1.
18 Feb 2019	Palmoplantar keratodermas v0.5	PKP1	Rebecca Foulger Source London North GLH was added to PKP1.
18 Feb 2019	Palmoplantar keratodermas v0.5	PHYH	Rebecca Foulger Source London North GLH was added to PHYH.
18 Feb 2019	Palmoplantar keratodermas v0.5	PEX7	Rebecca Foulger Source London North GLH was added to PEX7.
18 Feb 2019	Palmoplantar keratodermas v0.5	NSDHL	Rebecca Foulger Source London North GLH was added to NSDHL.
18 Feb 2019	Palmoplantar keratodermas v0.5	NIPAL4	Rebecca Foulger Source London North GLH was added to NIPAL4.
18 Feb 2019	Palmoplantar keratodermas v0.5	MVK	Rebecca Foulger Source London North GLH was added to MVK.
18 Feb 2019	Palmoplantar keratodermas v0.5	MBTPS2	Rebecca Foulger Source London North GLH was added to MBTPS2.
18 Feb 2019	Palmoplantar keratodermas v0.5	LOR	Rebecca Foulger Source London North GLH was added to LOR.
18 Feb 2019	Palmoplantar keratodermas v0.5	LIPN	Rebecca Foulger Source London North GLH was added to LIPN.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT9	Rebecca Foulger Source London North GLH was added to KRT9.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT6C	Rebecca Foulger Source London North GLH was added to KRT6C.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT2	Rebecca Foulger Source London North GLH was added to KRT2.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT10	Rebecca Foulger Source London North GLH was added to KRT10.
18 Feb 2019	Palmoplantar keratodermas v0.5	KRT1	Rebecca Foulger Source London North GLH was added to KRT1.
18 Feb 2019	Palmoplantar keratodermas v0.5	KDSR	Rebecca Foulger Source London North GLH was added to KDSR.
18 Feb 2019	Palmoplantar keratodermas v0.5	KANK2	Rebecca Foulger Source London North GLH was added to KANK2.
18 Feb 2019	Palmoplantar keratodermas v0.5	JUP	Rebecca Foulger Source London North GLH was added to JUP.
18 Feb 2019	Palmoplantar keratodermas v0.5	GJB2	Rebecca Foulger Source London North GLH was added to GJB2.
18 Feb 2019	Palmoplantar keratodermas v0.5	GJA1	Rebecca Foulger Source London North GLH was added to GJA1.
18 Feb 2019	Palmoplantar keratodermas v0.5	FLG	Rebecca Foulger Source London North GLH was added to FLG.
18 Feb 2019	Palmoplantar keratodermas v0.5	ENPP1	Rebecca Foulger Source London North GLH was added to ENPP1.
18 Feb 2019	Palmoplantar keratodermas v0.5	ELOVL4	Rebecca Foulger Source London North GLH was added to ELOVL4.
18 Feb 2019	Palmoplantar keratodermas v0.5	EBP	Rebecca Foulger Source London North GLH was added to EBP.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSP	Rebecca Foulger Source London North GLH was added to DSP.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSG4	Rebecca Foulger Source London North GLH was added to DSG4.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSG1	Rebecca Foulger Source London North GLH was added to DSG1.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSC3	Rebecca Foulger Source London North GLH was added to DSC3.
18 Feb 2019	Palmoplantar keratodermas v0.5	DSC2	Rebecca Foulger Source London North GLH was added to DSC2.
18 Feb 2019	Palmoplantar keratodermas v0.5	CYP4F22	Rebecca Foulger Source London North GLH was added to CYP4F22.
18 Feb 2019	Palmoplantar keratodermas v0.5	CTSC	Rebecca Foulger Source London North GLH was added to CTSC.
18 Feb 2019	Palmoplantar keratodermas v0.5	CSTA	Rebecca Foulger Source London North GLH was added to CSTA.
18 Feb 2019	Palmoplantar keratodermas v0.5	CLDN1	Rebecca Foulger Source London North GLH was added to CLDN1.
18 Feb 2019	Palmoplantar keratodermas v0.5	CERS3	Rebecca Foulger Source London North GLH was added to CERS3.
18 Feb 2019	Palmoplantar keratodermas v0.5	CDSN	Rebecca Foulger Source London North GLH was added to CDSN.
18 Feb 2019	Palmoplantar keratodermas v0.5	CAST	Rebecca Foulger Source London North GLH was added to CAST.
18 Feb 2019	Palmoplantar keratodermas v0.5	CASP14	Rebecca Foulger Source London North GLH was added to CASP14.
18 Feb 2019	Palmoplantar keratodermas v0.5	ARSE	Rebecca Foulger Source London North GLH was added to ARSE.
18 Feb 2019	Palmoplantar keratodermas v0.5	AQP5	Rebecca Foulger Source London North GLH was added to AQP5.
18 Feb 2019	Palmoplantar keratodermas v0.5	AP1S1	Rebecca Foulger Source London North GLH was added to AP1S1.
18 Feb 2019	Palmoplantar keratodermas v0.5	ALOXE3	Rebecca Foulger Source London North GLH was added to ALOXE3.
18 Feb 2019	Palmoplantar keratodermas v0.5	ALOX12B	Rebecca Foulger Source London North GLH was added to ALOX12B.
18 Feb 2019	Palmoplantar keratodermas v0.5	ALDH3A2	Rebecca Foulger Source London North GLH was added to ALDH3A2.
18 Feb 2019	Palmoplantar keratodermas v0.5	ADAM17	Rebecca Foulger Source London North GLH was added to ADAM17.
18 Feb 2019	Palmoplantar keratodermas v0.5	ABHD5	Rebecca Foulger Source London North GLH was added to ABHD5.
18 Feb 2019	Palmoplantar keratodermas v0.5	ABCA12	Rebecca Foulger Source London North GLH was added to ABCA12.
18 Feb 2019	Palmoplantar keratodermas v0.5	AAGAB	Rebecca Foulger Source London North GLH was added to AAGAB.
18 Feb 2019	Rare anaemia v0.25	NHP2	Louise Daugherty Mode of inheritance for gene: NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.24	NHP2	Louise Daugherty Classified gene: NHP2 as Amber List (moderate evidence)
18 Feb 2019	Rare anaemia v0.24	NHP2	Louise Daugherty Gene: nhp2 has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Rare anaemia v0.22	YARS2	Louise Daugherty Source North West GLH was added to YARS2.
18 Feb 2019	Rare anaemia v0.22	TSR2	Louise Daugherty Source North West GLH was added to TSR2.
18 Feb 2019	Rare anaemia v0.22	TPI1	Louise Daugherty Source North West GLH was added to TPI1.
18 Feb 2019	Rare anaemia v0.22	TMPRSS6	Louise Daugherty Source North West GLH was added to TMPRSS6.
18 Feb 2019	Rare anaemia v0.22	TF	Louise Daugherty Source North West GLH was added to TF.
18 Feb 2019	Rare anaemia v0.22	TCN2	Louise Daugherty Source North West GLH was added to TCN2.
18 Feb 2019	Rare anaemia v0.22	SPTB	Louise Daugherty Source North West GLH was added to SPTB.
18 Feb 2019	Rare anaemia v0.22	SPTA1	Louise Daugherty Source North West GLH was added to SPTA1.
18 Feb 2019	Rare anaemia v0.22	SLC4A1	Louise Daugherty Source North West GLH was added to SLC4A1.
18 Feb 2019	Rare anaemia v0.22	SLC2A1	Louise Daugherty Source North West GLH was added to SLC2A1.
18 Feb 2019	Rare anaemia v0.22	SLC25A38	Louise Daugherty Source North West GLH was added to SLC25A38.
18 Feb 2019	Rare anaemia v0.22	SLC19A2	Louise Daugherty Source North West GLH was added to SLC19A2.
18 Feb 2019	Rare anaemia v0.22	SLC11A2	Louise Daugherty Source North West GLH was added to SLC11A2.
18 Feb 2019	Rare anaemia v0.22	SEC23B	Louise Daugherty Source North West GLH was added to SEC23B.
18 Feb 2019	Rare anaemia v0.22	SBDS	Louise Daugherty Source North West GLH was added to SBDS.
18 Feb 2019	Rare anaemia v0.22	RPS7	Louise Daugherty Source North West GLH was added to RPS7.
18 Feb 2019	Rare anaemia v0.22	RPS29	Louise Daugherty Source North West GLH was added to RPS29.
18 Feb 2019	Rare anaemia v0.22	RPS27	Louise Daugherty Source North West GLH was added to RPS27.
18 Feb 2019	Rare anaemia v0.22	RPS26	Louise Daugherty Source North West GLH was added to RPS26.
18 Feb 2019	Rare anaemia v0.22	RPS24	Louise Daugherty Source North West GLH was added to RPS24.
18 Feb 2019	Rare anaemia v0.22	RPS19	Louise Daugherty Source North West GLH was added to RPS19.
18 Feb 2019	Rare anaemia v0.22	RPS17	Louise Daugherty Source North West GLH was added to RPS17.
18 Feb 2019	Rare anaemia v0.22	RPS10	Louise Daugherty Source North West GLH was added to RPS10.
18 Feb 2019	Rare anaemia v0.22	RPL9	Louise Daugherty Source North West GLH was added to RPL9.
18 Feb 2019	Rare anaemia v0.22	RPL5	Louise Daugherty Source North West GLH was added to RPL5.
18 Feb 2019	Rare anaemia v0.22	RPL35A	Louise Daugherty Source North West GLH was added to RPL35A.
18 Feb 2019	Rare anaemia v0.22	RPL15	Louise Daugherty Source North West GLH was added to RPL15.
18 Feb 2019	Rare anaemia v0.22	RPL11	Louise Daugherty Source North West GLH was added to RPL11.
18 Feb 2019	Rare anaemia v0.22	RHAG	Louise Daugherty Source North West GLH was added to RHAG.
18 Feb 2019	Rare anaemia v0.22	PUS1	Louise Daugherty Source North West GLH was added to PUS1.
18 Feb 2019	Rare anaemia v0.22	PKLR	Louise Daugherty Source North West GLH was added to PKLR.
18 Feb 2019	Rare anaemia v0.22	PIEZO1	Louise Daugherty Source North West GLH was added to PIEZO1.
18 Feb 2019	Rare anaemia v0.22	PFKM	Louise Daugherty Source North West GLH was added to PFKM.
18 Feb 2019	Rare anaemia v0.22	NT5C3A	Louise Daugherty Source North West GLH was added to NT5C3A.
18 Feb 2019	Rare anaemia v0.22	MTRR	Louise Daugherty Source North West GLH was added to MTRR.
18 Feb 2019	Rare anaemia v0.22	MTR	Louise Daugherty Source North West GLH was added to MTR.
18 Feb 2019	Rare anaemia v0.22	LPIN2	Louise Daugherty Source North West GLH was added to LPIN2.
18 Feb 2019	Rare anaemia v0.22	KLF1	Louise Daugherty Source North West GLH was added to KLF1.
18 Feb 2019	Rare anaemia v0.22	KIF23	Louise Daugherty Source North West GLH was added to KIF23.
18 Feb 2019	Rare anaemia v0.22	KCNN4	Louise Daugherty Source North West GLH was added to KCNN4.
18 Feb 2019	Rare anaemia v0.22	HSPA9	Louise Daugherty Source North West GLH was added to HSPA9.
18 Feb 2019	Rare anaemia v0.22	HK1	Louise Daugherty Source North West GLH was added to HK1.
18 Feb 2019	Rare anaemia v0.22	HBG2	Louise Daugherty Source North West GLH was added to HBG2.
18 Feb 2019	Rare anaemia v0.22	HBG1	Louise Daugherty Source North West GLH was added to HBG1.
18 Feb 2019	Rare anaemia v0.22	HBD	Louise Daugherty Source North West GLH was added to HBD.
18 Feb 2019	Rare anaemia v0.22	HBB	Louise Daugherty Source North West GLH was added to HBB.
18 Feb 2019	Rare anaemia v0.22	HBA2	Louise Daugherty Source North West GLH was added to HBA2.
18 Feb 2019	Rare anaemia v0.22	HBA1	Louise Daugherty Source North West GLH was added to HBA1.
18 Feb 2019	Rare anaemia v0.22	GSS	Louise Daugherty Source North West GLH was added to GSS.
18 Feb 2019	Rare anaemia v0.22	GSR	Louise Daugherty Source North West GLH was added to GSR.
18 Feb 2019	Rare anaemia v0.22	GPI	Louise Daugherty Source North West GLH was added to GPI.
18 Feb 2019	Rare anaemia v0.22	GLRX5	Louise Daugherty Source North West GLH was added to GLRX5.
18 Feb 2019	Rare anaemia v0.22	GCLC	Louise Daugherty Source North West GLH was added to GCLC.
18 Feb 2019	Rare anaemia v0.22	GATA1	Louise Daugherty Source North West GLH was added to GATA1.
18 Feb 2019	Rare anaemia v0.22	G6PD	Louise Daugherty Source North West GLH was added to G6PD.
18 Feb 2019	Rare anaemia v0.22	EPB42	Louise Daugherty Source North West GLH was added to EPB42.
18 Feb 2019	Rare anaemia v0.22	EPB41	Louise Daugherty Source North West GLH was added to EPB41.
18 Feb 2019	Rare anaemia v0.22	DHFR	Louise Daugherty Source North West GLH was added to DHFR.
18 Feb 2019	Rare anaemia v0.22	CYB5R3	Louise Daugherty Source North West GLH was added to CYB5R3.
18 Feb 2019	Rare anaemia v0.22	CUBN	Louise Daugherty Source North West GLH was added to CUBN.
18 Feb 2019	Rare anaemia v0.22	COX4I2	Louise Daugherty Source North West GLH was added to COX4I2.
18 Feb 2019	Rare anaemia v0.22	CDAN1	Louise Daugherty Source North West GLH was added to CDAN1.
18 Feb 2019	Rare anaemia v0.22	CD59	Louise Daugherty Source North West GLH was added to CD59. Rating Changed from Green List (high evidence) to Green List (high evidence)
18 Feb 2019	Rare anaemia v0.22	C15orf41	Louise Daugherty Source North West GLH was added to C15orf41.
18 Feb 2019	Rare anaemia v0.22	ANK1	Louise Daugherty Source North West GLH was added to ANK1.
18 Feb 2019	Rare anaemia v0.22	AMN	Louise Daugherty Source North West GLH was added to AMN.
18 Feb 2019	Rare anaemia v0.22	ALDOA	Louise Daugherty Source North West GLH was added to ALDOA.
18 Feb 2019	Rare anaemia v0.22	ALAS2	Louise Daugherty Source North West GLH was added to ALAS2.
18 Feb 2019	Rare anaemia v0.22	AK1	Louise Daugherty Source North West GLH was added to AK1.
18 Feb 2019	Rare anaemia v0.22	ABCG8	Louise Daugherty Source North West GLH was added to ABCG8.
18 Feb 2019	Rare anaemia v0.22	ABCG5	Louise Daugherty Source North West GLH was added to ABCG5.
18 Feb 2019	Rare anaemia v0.22	ABCB7	Louise Daugherty Source North West GLH was added to ABCB7.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	TP53	Louise Daugherty commented on gene: TP53: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	TERT	Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187270 / 601626 {Leukemia, acute myeloid}; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	TERC	Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 127550 / 614743 {Aplastic anemia}; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	SRP72	Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 602122 Bone marrow failure syndrome 1; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	RUNX1	Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	GATA2	Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	ETV6	Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	DDX41	Louise Daugherty commented on gene: DDX41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	CHEK2	Louise Daugherty commented on gene: CHEK2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CHEK2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	CEBPA	Louise Daugherty commented on gene: CEBPA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.16	ANKRD26	Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610855; PMID(s): none submitted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	TP53	Steve Keeney reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	TERT	Steve Keeney reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187270 / 601626 {Leukemia, acute myeloid}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	TERC	Steve Keeney reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 127550 / 614743 {Aplastic anemia}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	SRP72	Steve Keeney reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602122 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	RUNX1	Steve Keeney reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	GATA2	Steve Keeney reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	ETV6	Steve Keeney reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	DDX41	Steve Keeney reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	CHEK2	Steve Keeney reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	CEBPA	Steve Keeney reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.15	ANKRD26	Steve Keeney reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	TP53	Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	TERT	Louise Daugherty Added phenotypes 187270 / 601626 {Leukemia, acute myeloid} for gene: TERT
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	TERC	Louise Daugherty Added phenotypes 127550 / 614743 {Aplastic anemia} for gene: TERC
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	SRP72	Louise Daugherty Added phenotypes 602122 Bone marrow failure syndrome 1 for gene: SRP72
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	RUNX1	Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	GATA2	Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	ETV6	Louise Daugherty Added phenotypes 600618 / 601626 Leukemia, acute myeloid, somatic for gene: ETV6
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	DDX41	Louise Daugherty Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	CHEK2	Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	CEBPA	Louise Daugherty Added phenotypes 116897 / 601626 Leukemia, acute myeloid, somatic for gene: CEBPA
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.14	ANKRD26	Louise Daugherty Added phenotypes 610855 for gene: ANKRD26
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	TP53	Louise Daugherty Source North West GLH was added to TP53.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	TERT	Louise Daugherty Source North West GLH was added to TERT.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	TERC	Louise Daugherty Source North West GLH was added to TERC.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	SRP72	Louise Daugherty Source North West GLH was added to SRP72.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	RUNX1	Louise Daugherty Source North West GLH was added to RUNX1.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	GATA2	Louise Daugherty Source North West GLH was added to GATA2.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	ETV6	Louise Daugherty Source North West GLH was added to ETV6.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	DDX41	Louise Daugherty Source North West GLH was added to DDX41.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	CHEK2	Louise Daugherty Source North West GLH was added to CHEK2.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	CEBPA	Louise Daugherty Source North West GLH was added to CEBPA.
18 Feb 2019	Inherited predisposition to acute myeloid leukaemia (AML) v0.12	ANKRD26	Louise Daugherty Source North West GLH was added to ANKRD26.
18 Feb 2019	Intellectual disability v2.669	MAST1	Ivone Leong Phenotypes for gene: MAST1 were changed from Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	THBD	Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	SERPINE1	Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	SERPIND1	Louise Daugherty commented on gene: SERPIND1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPIND1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	SERPINC1	Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	PROS1	Louise Daugherty commented on gene: PROS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	PROCR	Louise Daugherty commented on gene: PROCR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROCR; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: none submitted; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	PROC	Louise Daugherty commented on gene: PROC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PROC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	PLG	Louise Daugherty commented on gene: PLG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 217090 Plasminogen deficiency, type I; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	PLAT	Louise Daugherty commented on gene: PLAT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612348 Thrombophilia, due to decreased release of PLAT; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	PIGA	Louise Daugherty commented on gene: PIGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300818 Paroxysmal nocturnal hemoglobinuria, somatic; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	HRG	Louise Daugherty commented on gene: HRG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HRG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	FGG	Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	FGB	Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	FGA	Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	F5	Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	F2	Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; PMID(s): none submitted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.34	ADAMTS13	Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
18 Feb 2019	Intellectual disability v2.668	MAPK8IP3	Ivone Leong Classified gene: MAPK8IP3 as Green List (high evidence)
18 Feb 2019	Intellectual disability v2.668	MAPK8IP3	Ivone Leong Added comment: Comment on list classification: MAPK8IP3 has been given a green gene rating based on the evidence provided by the expert review. This gene is not associated with any phenotype on OMIM or Gene2Phenotype.
18 Feb 2019	Intellectual disability v2.668	MAPK8IP3	Ivone Leong Gene: mapk8ip3 has been classified as Green List (High Evidence).
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	THBD	Steve Keeney reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	SERPINE1	Steve Keeney reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	SERPIND1	Steve Keeney reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612356 Thrombophilia due to heparin cofactor II deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	SERPINC1	Steve Keeney reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613118 Thrombophilia due to antithrombin III deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	PROS1	Steve Keeney reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612336 Thrombophilia due to protein S deficiency, autosomal dominant, 614514 Thrombophilia due to protein S deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	PROCR	Steve Keeney reviewed gene: PROCR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	PROC	Steve Keeney reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 176860 Thrombophilia due to protein C deficiency, autosomal dominant, 612304 Thrombophilia due to protein C deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	PLG	Steve Keeney reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 217090 Plasminogen deficiency, type I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	PLAT	Steve Keeney reviewed gene: PLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612348 Thrombophilia, due to decreased release of PLAT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	PIGA	Steve Keeney reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300818 Paroxysmal nocturnal hemoglobinuria, somatic; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	HRG	Steve Keeney reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613116 Thrombophilia due to HRG deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	FGG	Steve Keeney reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	FGB	Steve Keeney reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	FGA	Steve Keeney reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	F5	Steve Keeney reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	F2	Steve Keeney reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Dysprothrombinemia, 613679 Hypoprothrombinemia, 188050 Thrombophilia due to thrombin defect; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.33	ADAMTS13	Steve Keeney reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	THBD	Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	SERPINE1	Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	SERPIND1	Louise Daugherty Added phenotypes 612356 Thrombophilia due to heparin cofactor II deficiency for gene: SERPIND1
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	SERPINC1	Louise Daugherty Added phenotypes 613118 Thrombophilia due to antithrombin III deficiency for gene: SERPINC1
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	PROS1	Louise Daugherty Added phenotypes 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive for gene: PROS1
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	PROC	Louise Daugherty Added phenotypes 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant for gene: PROC
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	PLG	Louise Daugherty Added phenotypes 217090 Plasminogen deficiency, type I for gene: PLG
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	PLAT	Louise Daugherty Added phenotypes 612348 Thrombophilia, due to decreased release of PLAT for gene: PLAT
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	PIGA	Louise Daugherty Added phenotypes 300818 Paroxysmal nocturnal hemoglobinuria, somatic for gene: PIGA
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	HRG	Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	FGG	Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	FGB	Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	FGA	Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	F5	Louise Daugherty Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	F2	Louise Daugherty Added phenotypes 188050 Thrombophilia due to thrombin defect; 613679 Hypoprothrombinemia; 613679 Dysprothrombinemia for gene: F2
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.32	ADAMTS13	Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
18 Feb 2019	Intellectual disability v2.667	MAPK8IP3	Ivone Leong Phenotypes for gene: MAPK8IP3 were changed from 25363768; 28213671; 28135719 to Abnormal muscle tone; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; No OMIM number
18 Feb 2019	Intellectual disability v2.666	MAPK8IP3	Ivone Leong Publications for gene: MAPK8IP3 were set to
18 Feb 2019	Intellectual disability v2.665	MAP1B	Ivone Leong Classified gene: MAP1B as Amber List (moderate evidence)
18 Feb 2019	Intellectual disability v2.665	MAP1B	Ivone Leong Added comment: Comment on list classification: MAP1B has been given an amber gene rating based on the evidence provided by the expert review. It is not associated with any phenotype on OMIM or Gene2Phenotype.
18 Feb 2019	Intellectual disability v2.665	MAP1B	Ivone Leong Gene: map1b has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Intellectual disability v2.664	MAP1B	Ivone Leong Phenotypes for gene: MAP1B were changed from Intellectual disability to Intellectual disability; No OMIM number
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	THBD	Louise Daugherty Source North West GLH was added to THBD.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	SERPINE1	Louise Daugherty Source North West GLH was added to SERPINE1.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	SERPIND1	Louise Daugherty Source North West GLH was added to SERPIND1.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	SERPINC1	Louise Daugherty Source North West GLH was added to SERPINC1.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	PROS1	Louise Daugherty Source North West GLH was added to PROS1.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	PROCR	Louise Daugherty Source North West GLH was added to PROCR.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	PROC	Louise Daugherty Source North West GLH was added to PROC.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	PLG	Louise Daugherty Source North West GLH was added to PLG.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	PLAT	Louise Daugherty Source North West GLH was added to PLAT.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	PIGA	Louise Daugherty Source North West GLH was added to PIGA.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	HRG	Louise Daugherty Source North West GLH was added to HRG.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	FGG	Louise Daugherty Source North West GLH was added to FGG.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	FGB	Louise Daugherty Source North West GLH was added to FGB.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	FGA	Louise Daugherty Source North West GLH was added to FGA.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	F5	Louise Daugherty Source North West GLH was added to F5.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	F2	Louise Daugherty Source North West GLH was added to F2.
18 Feb 2019	Thrombophilia with a likely monogenic cause v0.30	ADAMTS13	Louise Daugherty Source North West GLH was added to ADAMTS13.
18 Feb 2019	Intellectual disability v2.663	MACF1	Ivone Leong Classified gene: MACF1 as Green List (high evidence)
18 Feb 2019	Intellectual disability v2.663	MACF1	Ivone Leong Added comment: Comment on list classification: MACF1 has been given a green gene rating based on the evidence provided by the expert review. The gene is associated with a phenotype on OMIM but not on Gene2Phenotype.
18 Feb 2019	Intellectual disability v2.663	MACF1	Ivone Leong Gene: macf1 has been classified as Green List (High Evidence).
18 Feb 2019	Intellectual disability v2.662	MACF1	Ivone Leong Publications for gene: MACF1 were set to 30471716
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	TMPRSS6	Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200.IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	TFR2	Louise Daugherty commented on gene: TFR2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TFR2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604250.HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	TF	Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	SLC40A1	Louise Daugherty commented on gene: SLC40A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC40A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606069.HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	SLC11A2	Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia (OMIM entry 600523); PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	SERPINC1	Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	HFE2	Louise Daugherty commented on gene: HFE2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HJV; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 602390.HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	HFE	Louise Daugherty commented on gene: HFE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HFE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235200.HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	HEPH	Louise Daugherty commented on gene: HEPH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Not submitted; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	HAMP	Louise Daugherty commented on gene: HAMP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAMP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613313.HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	GBA	Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	FTL	Louise Daugherty commented on gene: FTL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 600886.HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC, 606159. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 , 615604. L-FERRITIN DEFICIENCY; LFTD; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	FTH1	Louise Daugherty commented on gene: FTH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTH1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	FECH	Louise Daugherty commented on gene: FECH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FECH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 177000.PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	CYBRD1	Louise Daugherty commented on gene: CYBRD1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYBRD1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: NA IRON OVERLOAD; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	CP	Louise Daugherty commented on gene: CP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604290.ACERULOPLASMINEMIA; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	BMP6	Louise Daugherty commented on gene: BMP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BMP6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: NA IRON OVERLOAD; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	ATP7B	Louise Daugherty commented on gene: ATP7B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ATP7B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277900.WILSON DISEASE; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.25	ACVR1	Louise Daugherty commented on gene: ACVR1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVR1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: IRIDA; PMID(s): none submitted
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	TMPRSS6	Steve Keeney reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA, IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	TFR2	Steve Keeney reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3, HFE3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	TF	Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	SLC40A1	Steve Keeney reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4, HFE4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	SLC11A2	Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, AHMIO1 DMT1-related anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	SERPINC1	Steve Keeney reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY, A1ATD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	HFE2	Steve Keeney reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A, HFE2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	HFE	Steve Keeney reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	HEPH	Steve Keeney reviewed gene: HEPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	HAMP	Steve Keeney reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B, HFE2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	GBA	Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	FTL	Steve Keeney reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, HRFTC, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	FTH1	Steve Keeney reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	FECH	Steve Keeney reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1, EPP1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	CYBRD1	Steve Keeney reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	CP	Steve Keeney reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604290 ACERULOPLASMINEMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	BMP6	Steve Keeney reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	ATP7B	Steve Keeney reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277900 WILSON DISEASE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.24	ACVR1	Steve Keeney reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	TMPRSS6	Louise Daugherty Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	TFR2	Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	TF	Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	SLC40A1	Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	SLC11A2	Louise Daugherty Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia for gene: SLC11A2
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	SERPINC1	Louise Daugherty Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	HFE2	Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	HFE	Louise Daugherty Added phenotypes HFE1; 235200HEMOCHROMATOSIS, TYPE 1 for gene: HFE
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	HAMP	Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	GBA	Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	FTL	Louise Daugherty Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	FTH1	Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	FECH	Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	CYBRD1	Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: CYBRD1
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	CP	Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	BMP6	Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: BMP6
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	ATP7B	Louise Daugherty Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.23	ACVR1	Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
18 Feb 2019	Intellectual disability v2.661	MACF1	Ivone Leong Publications for gene: MACF1 were set to
18 Feb 2019	Intellectual disability v2.660	MACF1	Ivone Leong Phenotypes for gene: MACF1 were changed from Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia to Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia; Lissencephaly 9 with complex brainstem malformation, 618325
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	TMPRSS6	Louise Daugherty Source North West GLH was added to TMPRSS6.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	TFR2	Louise Daugherty Source North West GLH was added to TFR2.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	TF	Louise Daugherty Source North West GLH was added to TF.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	SLC40A1	Louise Daugherty Source North West GLH was added to SLC40A1.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	SLC11A2	Louise Daugherty Source North West GLH was added to SLC11A2.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	SERPINC1	Louise Daugherty Source North West GLH was added to SERPINC1.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	HFE2	Louise Daugherty Source North West GLH was added to HFE2.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	HFE	Louise Daugherty Source North West GLH was added to HFE.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	HEPH	Louise Daugherty Source North West GLH was added to HEPH.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	HAMP	Louise Daugherty Source North West GLH was added to HAMP.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	GBA	Louise Daugherty Source North West GLH was added to GBA.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	FTL	Louise Daugherty Source North West GLH was added to FTL.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	FTH1	Louise Daugherty Source North West GLH was added to FTH1.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	FECH	Louise Daugherty Source North West GLH was added to FECH.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	CYBRD1	Louise Daugherty Source North West GLH was added to CYBRD1.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	CP	Louise Daugherty Source North West GLH was added to CP.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	BMP6	Louise Daugherty Source North West GLH was added to BMP6.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	ATP7B	Louise Daugherty Source North West GLH was added to ATP7B.
18 Feb 2019	Iron metabolism disorders - NOT common HFE mutations v0.21	ACVR1	Louise Daugherty Source North West GLH was added to ACVR1.
18 Feb 2019	Intellectual disability v2.659	MAB21L1	Ivone Leong Classified gene: MAB21L1 as Green List (high evidence)
18 Feb 2019	Intellectual disability v2.659	MAB21L1	Ivone Leong Added comment: Comment on list classification: MAB21L1 has been given a green gene rating based on the evidence provided by the expert review. It is not associated with any phenotypes on OMIM or Gene2Phenotype.
18 Feb 2019	Intellectual disability v2.659	MAB21L1	Ivone Leong Gene: mab21l1 has been classified as Green List (High Evidence).
18 Feb 2019	Bleeding and platelet disorders v0.28	WAS	Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	VWF	Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	VPS33B	Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	VKORC1	Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	VIPAS39	Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	TUBB1	Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	TPM4	Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	THPO	Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	THBD	Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	TBXAS1	Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	TBXA2R	Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	STXBP2	Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	STX11	Louise Daugherty commented on gene: STX11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STX11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	STIM1	Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	SRC	Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	SLFN14	Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	SLC45A2	Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	SERPINF2	Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	SERPINE1	Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	RUNX1	Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	RBM8A	Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	RASGRP2	Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	PTPRJ	Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	PTPN11	Louise Daugherty commented on gene: PTPN11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPN11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 163950 Noonan syndrome 1; PMID(s): none submitted. Comment: ? Appropriate for this panel since Noonan's?
18 Feb 2019	Bleeding and platelet disorders v0.28	PTGS1	Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	PRKACG	Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	PLAU	Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	PLA2G4A	Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	P2RY12	Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	NBEAL2	Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	NBEA	Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	MYH9	Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	MPL	Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	MPIG6B	Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	MECOM	Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	MCFD2	Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	LYST	Louise Daugherty commented on gene: LYST: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LYST; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 214500 Chediak-Higashi syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	LMAN1	Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	KNG1	Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	KLKB1	Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	KDSR	Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ITGB3	Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ITGA2B	Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ITGA2	Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	HPS6	Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	HPS5	Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	HPS4	Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	HPS3	Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	HPS1	Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	HOXA11	Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GP9	Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GP6	Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GP1BB	Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GP1BA	Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GNE	Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GGCX	Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GFI1B	Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	GBA	Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted. Comment: Think appropriate as Gauchers indocation
18 Feb 2019	Bleeding and platelet disorders v0.28	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FYB1	Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FLNA	Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FLI1	Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FGG	Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FGB	Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FGA	Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	FERMT3	Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F9	Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F8	Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F7	Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F5	Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F2R	Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Type 1 VWD not strong enough evidence?; PMID(s): none submitted. Comment: not strong enough evidence?
18 Feb 2019	Bleeding and platelet disorders v0.28	F2	Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F13B	Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F13A1	Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F12	Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F11	Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	F10	Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ETV6	Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	EPHB2	Louise Daugherty commented on gene: EPHB2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted. Comment: One recent report
18 Feb 2019	Bleeding and platelet disorders v0.28	ENG	Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	DTNBP1	Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	DIAPH1	Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	CYCS	Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	CDC42	Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	BLOC1S6	Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	BLOC1S3	Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ARPC1B	Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	AP3D1	Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	AP3B1	Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ANO6	Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ANKRD26	Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ADAMTS13	Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ACVRL1	Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ACTN1	Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ACTB	Louise Daugherty commented on gene: ACTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ABCG8	Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
18 Feb 2019	Bleeding and platelet disorders v0.28	ABCG5	Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
18 Feb 2019	Monogenic hearing loss v1.89	CRYM	Eleanor Williams commented on gene: CRYM
18 Feb 2019	Monogenic hearing loss v1.89	CEACAM16	Eleanor Williams Publications for gene: CEACAM16 were set to PMID:16139472; 21368133; 7655461
18 Feb 2019	Bleeding and platelet disorders v0.27	WAS	Steve Keeney reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked, 313900 Thrombocytopenia, X-linked (intermittent); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Bleeding and platelet disorders v0.27	VWF	Steve Keeney reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	VPS33B	Steve Keeney reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	VKORC1	Steve Keeney reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2, 122700 Warfarin resistance; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	VIPAS39	Steve Keeney reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	TUBB1	Steve Keeney reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	TPM4	Steve Keeney reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	THPO	Steve Keeney reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	THBD	Steve Keeney reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Bleeding and platelet disorders v0.27	TBXAS1	Steve Keeney reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	TBXA2R	Steve Keeney reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	STXBP2	Steve Keeney reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	STX11	Steve Keeney reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	STIM1	Steve Keeney reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	SRC	Steve Keeney reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	SLFN14	Steve Keeney reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	SLC45A2	Steve Keeney reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	SERPINF2	Steve Keeney reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	SERPINE1	Steve Keeney reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	RUNX1	Steve Keeney reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	RBM8A	Steve Keeney reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	RASGRP2	Steve Keeney reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	PTPRJ	Steve Keeney reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	PTPN11	Steve Keeney reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 163950 Noonan syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	PTGS1	Steve Keeney reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12, BDPLT12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	PRKACG	Steve Keeney reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176 BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	PLAU	Steve Keeney reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	PLA2G4A	Steve Keeney reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	P2RY12	Steve Keeney reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	NBEAL2	Steve Keeney reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	NBEA	Steve Keeney reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	MYH9	Steve Keeney reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	MPL	Steve Keeney reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	MPIG6B	Steve Keeney reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	MECOM	Steve Keeney reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	MCFD2	Steve Keeney reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	LYST	Steve Keeney reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 214500 Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	LMAN1	Steve Keeney reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	KNG1	Steve Keeney reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	KLKB1	Steve Keeney reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	KDSR	Steve Keeney reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ITGB3	Steve Keeney reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ITGA2B	Steve Keeney reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ITGA2	Steve Keeney reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	HPS6	Steve Keeney reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	HPS5	Steve Keeney reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	HPS4	Steve Keeney reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	HPS3	Steve Keeney reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	HPS1	Steve Keeney reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	HOXA11	Steve Keeney reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	GP9	Steve Keeney reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GP6	Steve Keeney reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GP1BB	Steve Keeney reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GP1BA	Steve Keeney reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GNE	Steve Keeney reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GGCX	Steve Keeney reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GFI1B	Steve Keeney reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GBA	Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	GATA1	Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Bleeding and platelet disorders v0.27	FYB1	Steve Keeney reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	FLNA	Steve Keeney reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Bleeding and platelet disorders v0.27	FLI1	Steve Keeney reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	FGG	Steve Keeney reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	FGB	Steve Keeney reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	FGA	Steve Keeney reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	FERMT3	Steve Keeney reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	F9	Steve Keeney reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F8	Steve Keeney reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F7	Steve Keeney reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F5	Steve Keeney reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F2R	Steve Keeney reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F2	Steve Keeney reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F13B	Steve Keeney reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F13A1	Steve Keeney reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F12	Steve Keeney reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	F11	Steve Keeney reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	F10	Steve Keeney reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Bleeding and platelet disorders v0.27	ETV6	Steve Keeney reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	EPHB2	Steve Keeney reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ENG	Steve Keeney reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	DTNBP1	Steve Keeney reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	DIAPH1	Steve Keeney reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	CYCS	Steve Keeney reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	CDC42	Steve Keeney reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	BLOC1S6	Steve Keeney reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	BLOC1S3	Steve Keeney reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ARPC1B	Steve Keeney reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	AP3D1	Steve Keeney reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	AP3B1	Steve Keeney reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ANO6	Steve Keeney reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ANKRD26	Steve Keeney reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	ADAMTS13	Steve Keeney reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ACVRL1	Steve Keeney reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Bleeding and platelet disorders v0.27	ACTN1	Steve Keeney reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Bleeding and platelet disorders v0.27	ACTB	Steve Keeney reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ABCG8	Steve Keeney reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Bleeding and platelet disorders v0.27	ABCG5	Steve Keeney reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Monogenic hearing loss v1.88	CEACAM16	Eleanor Williams Mode of inheritance for gene: CEACAM16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Monogenic hearing loss v1.87	CEACAM16	Eleanor Williams Classified gene: CEACAM16 as Green List (high evidence)
18 Feb 2019	Monogenic hearing loss v1.87	CEACAM16	Eleanor Williams Added comment: Comment on list classification: Changed rating from red to green. 3 unrelated cases reported.
18 Feb 2019	Monogenic hearing loss v1.87	CEACAM16	Eleanor Williams Gene: ceacam16 has been classified as Green List (High Evidence).
18 Feb 2019	Intellectual disability v2.658	MAB21L1	Ivone Leong Publications for gene: MAB21L1 were set to 27103078
18 Feb 2019	Monogenic hearing loss v1.86	CEACAM16	Eleanor Williams commented on gene: CEACAM16
18 Feb 2019	Bleeding and platelet disorders v0.26	WAS	Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS
18 Feb 2019	Bleeding and platelet disorders v0.26	VWF	Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
18 Feb 2019	Bleeding and platelet disorders v0.26	VPS33B	Louise Daugherty Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
18 Feb 2019	Bleeding and platelet disorders v0.26	VKORC1	Louise Daugherty Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
18 Feb 2019	Bleeding and platelet disorders v0.26	VIPAS39	Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
18 Feb 2019	Bleeding and platelet disorders v0.26	TUBB1	Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
18 Feb 2019	Bleeding and platelet disorders v0.26	THPO	Louise Daugherty Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
18 Feb 2019	Bleeding and platelet disorders v0.26	THBD	Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
18 Feb 2019	Bleeding and platelet disorders v0.26	TBXAS1	Louise Daugherty Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
18 Feb 2019	Bleeding and platelet disorders v0.26	TBXA2R	Louise Daugherty Added phenotypes BDPLT13; 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
18 Feb 2019	Bleeding and platelet disorders v0.26	STXBP2	Louise Daugherty Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
18 Feb 2019	Bleeding and platelet disorders v0.26	STIM1	Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
18 Feb 2019	Bleeding and platelet disorders v0.26	SRC	Louise Daugherty Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
18 Feb 2019	Bleeding and platelet disorders v0.26	SLFN14	Louise Daugherty Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
18 Feb 2019	Bleeding and platelet disorders v0.26	SLC45A2	Louise Daugherty Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2
18 Feb 2019	Bleeding and platelet disorders v0.26	SERPINF2	Louise Daugherty Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
18 Feb 2019	Bleeding and platelet disorders v0.26	SERPINE1	Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
18 Feb 2019	Bleeding and platelet disorders v0.26	RUNX1	Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
18 Feb 2019	Bleeding and platelet disorders v0.26	RBM8A	Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
18 Feb 2019	Bleeding and platelet disorders v0.26	RASGRP2	Louise Daugherty Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
18 Feb 2019	Bleeding and platelet disorders v0.26	PTPN11	Louise Daugherty Added phenotypes 163950 Noonan syndrome 1 for gene: PTPN11
18 Feb 2019	Bleeding and platelet disorders v0.26	PTGS1	Louise Daugherty Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
18 Feb 2019	Bleeding and platelet disorders v0.26	PRKACG	Louise Daugherty Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
18 Feb 2019	Bleeding and platelet disorders v0.26	PLAU	Louise Daugherty Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
18 Feb 2019	Bleeding and platelet disorders v0.26	PLA2G4A	Louise Daugherty Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A
18 Feb 2019	Bleeding and platelet disorders v0.26	P2RY12	Louise Daugherty Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
18 Feb 2019	Bleeding and platelet disorders v0.26	NBEAL2	Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
18 Feb 2019	Bleeding and platelet disorders v0.26	MYH9	Louise Daugherty Added phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
18 Feb 2019	Bleeding and platelet disorders v0.26	MPL	Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
18 Feb 2019	Bleeding and platelet disorders v0.26	MPIG6B	Louise Daugherty Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
18 Feb 2019	Bleeding and platelet disorders v0.26	MECOM	Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
18 Feb 2019	Bleeding and platelet disorders v0.26	MCFD2	Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
18 Feb 2019	Bleeding and platelet disorders v0.26	LYST	Louise Daugherty Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST
18 Feb 2019	Bleeding and platelet disorders v0.26	LMAN1	Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
18 Feb 2019	Bleeding and platelet disorders v0.26	KNG1	Louise Daugherty Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1
18 Feb 2019	Bleeding and platelet disorders v0.26	KLKB1	Louise Daugherty Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
18 Feb 2019	Bleeding and platelet disorders v0.26	KDSR	Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
18 Feb 2019	Bleeding and platelet disorders v0.26	ITGB3	Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
18 Feb 2019	Bleeding and platelet disorders v0.26	ITGA2B	Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
18 Feb 2019	Bleeding and platelet disorders v0.26	ITGA2	Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
18 Feb 2019	Bleeding and platelet disorders v0.26	HPS6	Louise Daugherty Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
18 Feb 2019	Bleeding and platelet disorders v0.26	HPS5	Louise Daugherty Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
18 Feb 2019	Bleeding and platelet disorders v0.26	HPS4	Louise Daugherty Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
18 Feb 2019	Bleeding and platelet disorders v0.26	HPS3	Louise Daugherty Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
18 Feb 2019	Bleeding and platelet disorders v0.26	HPS1	Louise Daugherty Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
18 Feb 2019	Bleeding and platelet disorders v0.26	HOXA11	Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
18 Feb 2019	Bleeding and platelet disorders v0.26	GP9	Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP9
18 Feb 2019	Bleeding and platelet disorders v0.26	GP6	Louise Daugherty Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
18 Feb 2019	Bleeding and platelet disorders v0.26	GP1BB	Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
18 Feb 2019	Bleeding and platelet disorders v0.26	GP1BA	Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA
18 Feb 2019	Bleeding and platelet disorders v0.26	GNE	Louise Daugherty Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE
18 Feb 2019	Bleeding and platelet disorders v0.26	GGCX	Louise Daugherty Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
18 Feb 2019	Bleeding and platelet disorders v0.26	GFI1B	Louise Daugherty Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
18 Feb 2019	Bleeding and platelet disorders v0.26	GBA	Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
18 Feb 2019	Bleeding and platelet disorders v0.26	GATA1	Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
18 Feb 2019	Bleeding and platelet disorders v0.26	FYB1	Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
18 Feb 2019	Bleeding and platelet disorders v0.26	FLNA	Louise Daugherty Added phenotypes Macrothrombocytopenia for gene: FLNA
18 Feb 2019	Bleeding and platelet disorders v0.26	FLI1	Louise Daugherty Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1
18 Feb 2019	Bleeding and platelet disorders v0.26	FGG	Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
18 Feb 2019	Bleeding and platelet disorders v0.26	FGB	Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
18 Feb 2019	Bleeding and platelet disorders v0.26	FGA	Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
18 Feb 2019	Bleeding and platelet disorders v0.26	FERMT3	Louise Daugherty Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
18 Feb 2019	Bleeding and platelet disorders v0.26	F9	Louise Daugherty Added phenotypes 306900 Haemophilia B for gene: F9
18 Feb 2019	Bleeding and platelet disorders v0.26	F8	Louise Daugherty Added phenotypes 306700 Haemophilia A for gene: F8
18 Feb 2019	Bleeding and platelet disorders v0.26	F7	Louise Daugherty Added phenotypes 227500 Factor VII deficiency for gene: F7
18 Feb 2019	Bleeding and platelet disorders v0.26	F5	Louise Daugherty Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
18 Feb 2019	Bleeding and platelet disorders v0.26	F2R	Louise Daugherty Added phenotypes Type 1 VWD for gene: F2R
18 Feb 2019	Bleeding and platelet disorders v0.26	F2	Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
18 Feb 2019	Bleeding and platelet disorders v0.26	F13B	Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
18 Feb 2019	Bleeding and platelet disorders v0.26	F13A1	Louise Daugherty Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
18 Feb 2019	Bleeding and platelet disorders v0.26	F12	Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
18 Feb 2019	Bleeding and platelet disorders v0.26	F11	Louise Daugherty Added phenotypes 612416 Factor XI deficiency for gene: F11
18 Feb 2019	Bleeding and platelet disorders v0.26	F10	Louise Daugherty Added phenotypes 227600 Factor X deficiency for gene: F10
18 Feb 2019	Bleeding and platelet disorders v0.26	ETV6	Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
18 Feb 2019	Bleeding and platelet disorders v0.26	ENG	Louise Daugherty Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
18 Feb 2019	Bleeding and platelet disorders v0.26	DTNBP1	Louise Daugherty Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
18 Feb 2019	Bleeding and platelet disorders v0.26	DIAPH1	Louise Daugherty Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1
18 Feb 2019	Bleeding and platelet disorders v0.26	CYCS	Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
18 Feb 2019	Bleeding and platelet disorders v0.26	CDC42	Louise Daugherty Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
18 Feb 2019	Bleeding and platelet disorders v0.26	BLOC1S6	Louise Daugherty Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
18 Feb 2019	Bleeding and platelet disorders v0.26	BLOC1S3	Louise Daugherty Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
18 Feb 2019	Bleeding and platelet disorders v0.26	ARPC1B	Louise Daugherty Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
18 Feb 2019	Bleeding and platelet disorders v0.26	AP3D1	Louise Daugherty Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
18 Feb 2019	Bleeding and platelet disorders v0.26	AP3B1	Louise Daugherty Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
18 Feb 2019	Bleeding and platelet disorders v0.26	ANO6	Louise Daugherty Added phenotypes 262890 Scott syndrome for gene: ANO6
18 Feb 2019	Bleeding and platelet disorders v0.26	ANKRD26	Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
18 Feb 2019	Bleeding and platelet disorders v0.26	ADAMTS13	Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
18 Feb 2019	Bleeding and platelet disorders v0.26	ACVRL1	Louise Daugherty Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
18 Feb 2019	Bleeding and platelet disorders v0.26	ACTN1	Louise Daugherty Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
18 Feb 2019	Bleeding and platelet disorders v0.26	ACTB	Louise Daugherty Added phenotypes AD thrombocytopenia for gene: ACTB
18 Feb 2019	Bleeding and platelet disorders v0.26	ABCG8	Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
18 Feb 2019	Bleeding and platelet disorders v0.26	ABCG5	Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
18 Feb 2019	Intellectual disability v2.657	MAB21L1	Ivone Leong Phenotypes for gene: MAB21L1 were changed from Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system to Global developmental delay; Intellectual disability; Cerebellar hypoplasia; Abnormality of the eye; Abnormality of the genital system; No OMIM number
18 Feb 2019	Bleeding and platelet disorders v0.24	WAS	Louise Daugherty Source North West GLH was added to WAS.
18 Feb 2019	Bleeding and platelet disorders v0.24	VWF	Louise Daugherty Source North West GLH was added to VWF.
18 Feb 2019	Bleeding and platelet disorders v0.24	VPS33B	Louise Daugherty Source North West GLH was added to VPS33B.
18 Feb 2019	Bleeding and platelet disorders v0.24	VKORC1	Louise Daugherty Source North West GLH was added to VKORC1.
18 Feb 2019	Bleeding and platelet disorders v0.24	VIPAS39	Louise Daugherty Source North West GLH was added to VIPAS39.
18 Feb 2019	Bleeding and platelet disorders v0.24	TUBB1	Louise Daugherty Source North West GLH was added to TUBB1.
18 Feb 2019	Bleeding and platelet disorders v0.24	TPM4	Louise Daugherty Source North West GLH was added to TPM4.
18 Feb 2019	Bleeding and platelet disorders v0.24	THPO	Louise Daugherty Source North West GLH was added to THPO.
18 Feb 2019	Bleeding and platelet disorders v0.24	THBD	Louise Daugherty Source North West GLH was added to THBD.
18 Feb 2019	Bleeding and platelet disorders v0.24	TBXAS1	Louise Daugherty Source North West GLH was added to TBXAS1.
18 Feb 2019	Bleeding and platelet disorders v0.24	TBXA2R	Louise Daugherty Source North West GLH was added to TBXA2R.
18 Feb 2019	Bleeding and platelet disorders v0.24	STXBP2	Louise Daugherty Source North West GLH was added to STXBP2.
18 Feb 2019	Bleeding and platelet disorders v0.24	STX11	Louise Daugherty Source North West GLH was added to STX11.
18 Feb 2019	Bleeding and platelet disorders v0.24	STIM1	Louise Daugherty Source North West GLH was added to STIM1.
18 Feb 2019	Bleeding and platelet disorders v0.24	SRC	Louise Daugherty Source North West GLH was added to SRC.
18 Feb 2019	Bleeding and platelet disorders v0.24	SLFN14	Louise Daugherty Source North West GLH was added to SLFN14.
18 Feb 2019	Bleeding and platelet disorders v0.24	SLC45A2	Louise Daugherty Source North West GLH was added to SLC45A2.
18 Feb 2019	Bleeding and platelet disorders v0.24	SERPINF2	Louise Daugherty Source North West GLH was added to SERPINF2.
18 Feb 2019	Bleeding and platelet disorders v0.24	SERPINE1	Louise Daugherty Source North West GLH was added to SERPINE1.
18 Feb 2019	Bleeding and platelet disorders v0.24	RUNX1	Louise Daugherty Source North West GLH was added to RUNX1.
18 Feb 2019	Bleeding and platelet disorders v0.24	RBM8A	Louise Daugherty Source North West GLH was added to RBM8A.
18 Feb 2019	Bleeding and platelet disorders v0.24	RASGRP2	Louise Daugherty Source North West GLH was added to RASGRP2.
18 Feb 2019	Bleeding and platelet disorders v0.24	PTPRJ	Louise Daugherty Source North West GLH was added to PTPRJ.
18 Feb 2019	Bleeding and platelet disorders v0.24	PTPN11	Louise Daugherty Source North West GLH was added to PTPN11.
18 Feb 2019	Bleeding and platelet disorders v0.24	PTGS1	Louise Daugherty Source North West GLH was added to PTGS1.
18 Feb 2019	Bleeding and platelet disorders v0.24	PRKACG	Louise Daugherty Source North West GLH was added to PRKACG.
18 Feb 2019	Bleeding and platelet disorders v0.24	PLAU	Louise Daugherty Source North West GLH was added to PLAU.
18 Feb 2019	Bleeding and platelet disorders v0.24	PLA2G4A	Louise Daugherty Source North West GLH was added to PLA2G4A.
18 Feb 2019	Bleeding and platelet disorders v0.24	P2RY12	Louise Daugherty Source North West GLH was added to P2RY12.
18 Feb 2019	Bleeding and platelet disorders v0.24	NBEAL2	Louise Daugherty Source North West GLH was added to NBEAL2.
18 Feb 2019	Bleeding and platelet disorders v0.24	NBEA	Louise Daugherty Source North West GLH was added to NBEA.
18 Feb 2019	Bleeding and platelet disorders v0.24	MYH9	Louise Daugherty Source North West GLH was added to MYH9.
18 Feb 2019	Bleeding and platelet disorders v0.24	MPL	Louise Daugherty Source North West GLH was added to MPL.
18 Feb 2019	Bleeding and platelet disorders v0.24	MPIG6B	Louise Daugherty Source North West GLH was added to MPIG6B.
18 Feb 2019	Bleeding and platelet disorders v0.24	MECOM	Louise Daugherty Source North West GLH was added to MECOM.
18 Feb 2019	Bleeding and platelet disorders v0.24	MCFD2	Louise Daugherty Source North West GLH was added to MCFD2.
18 Feb 2019	Bleeding and platelet disorders v0.24	LYST	Louise Daugherty Source North West GLH was added to LYST.
18 Feb 2019	Bleeding and platelet disorders v0.24	LMAN1	Louise Daugherty Source North West GLH was added to LMAN1.
18 Feb 2019	Bleeding and platelet disorders v0.24	KNG1	Louise Daugherty Source North West GLH was added to KNG1.
18 Feb 2019	Bleeding and platelet disorders v0.24	KLKB1	Louise Daugherty Source North West GLH was added to KLKB1.
18 Feb 2019	Bleeding and platelet disorders v0.24	KDSR	Louise Daugherty Source North West GLH was added to KDSR.
18 Feb 2019	Bleeding and platelet disorders v0.24	ITGB3	Louise Daugherty Source North West GLH was added to ITGB3.
18 Feb 2019	Bleeding and platelet disorders v0.24	ITGA2B	Louise Daugherty Source North West GLH was added to ITGA2B.
18 Feb 2019	Bleeding and platelet disorders v0.24	ITGA2	Louise Daugherty Source North West GLH was added to ITGA2.
18 Feb 2019	Bleeding and platelet disorders v0.24	HPS6	Louise Daugherty Source North West GLH was added to HPS6.
18 Feb 2019	Bleeding and platelet disorders v0.24	HPS5	Louise Daugherty Source North West GLH was added to HPS5.
18 Feb 2019	Bleeding and platelet disorders v0.24	HPS4	Louise Daugherty Source North West GLH was added to HPS4.
18 Feb 2019	Bleeding and platelet disorders v0.24	HPS3	Louise Daugherty Source North West GLH was added to HPS3.
18 Feb 2019	Bleeding and platelet disorders v0.24	HPS1	Louise Daugherty Source North West GLH was added to HPS1.
18 Feb 2019	Bleeding and platelet disorders v0.24	HOXA11	Louise Daugherty Source North West GLH was added to HOXA11.
18 Feb 2019	Bleeding and platelet disorders v0.24	GP9	Louise Daugherty Source North West GLH was added to GP9.
18 Feb 2019	Bleeding and platelet disorders v0.24	GP6	Louise Daugherty Source North West GLH was added to GP6.
18 Feb 2019	Bleeding and platelet disorders v0.24	GP1BB	Louise Daugherty Source North West GLH was added to GP1BB.
18 Feb 2019	Bleeding and platelet disorders v0.24	GP1BA	Louise Daugherty Source North West GLH was added to GP1BA.
18 Feb 2019	Bleeding and platelet disorders v0.24	GNE	Louise Daugherty Source North West GLH was added to GNE.
18 Feb 2019	Bleeding and platelet disorders v0.24	GGCX	Louise Daugherty Source North West GLH was added to GGCX.
18 Feb 2019	Bleeding and platelet disorders v0.24	GFI1B	Louise Daugherty Source North West GLH was added to GFI1B.
18 Feb 2019	Bleeding and platelet disorders v0.24	GBA	Louise Daugherty Source North West GLH was added to GBA.
18 Feb 2019	Bleeding and platelet disorders v0.24	GATA1	Louise Daugherty Source North West GLH was added to GATA1.
18 Feb 2019	Bleeding and platelet disorders v0.24	FYB1	Louise Daugherty Source North West GLH was added to FYB1.
18 Feb 2019	Bleeding and platelet disorders v0.24	FLNA	Louise Daugherty Source North West GLH was added to FLNA.
18 Feb 2019	Bleeding and platelet disorders v0.24	FLI1	Louise Daugherty Source North West GLH was added to FLI1.
18 Feb 2019	Bleeding and platelet disorders v0.24	FGG	Louise Daugherty Source North West GLH was added to FGG.
18 Feb 2019	Bleeding and platelet disorders v0.24	FGB	Louise Daugherty Source North West GLH was added to FGB.
18 Feb 2019	Bleeding and platelet disorders v0.24	FGA	Louise Daugherty Source North West GLH was added to FGA.
18 Feb 2019	Bleeding and platelet disorders v0.24	FERMT3	Louise Daugherty Source North West GLH was added to FERMT3.
18 Feb 2019	Bleeding and platelet disorders v0.24	F9	Louise Daugherty Source North West GLH was added to F9.
18 Feb 2019	Bleeding and platelet disorders v0.24	F8	Louise Daugherty Source North West GLH was added to F8.
18 Feb 2019	Bleeding and platelet disorders v0.24	F7	Louise Daugherty Source North West GLH was added to F7.
18 Feb 2019	Bleeding and platelet disorders v0.24	F5	Louise Daugherty Source North West GLH was added to F5.
18 Feb 2019	Bleeding and platelet disorders v0.24	F2R	Louise Daugherty Source North West GLH was added to F2R.
18 Feb 2019	Bleeding and platelet disorders v0.24	F2	Louise Daugherty Source North West GLH was added to F2.
18 Feb 2019	Bleeding and platelet disorders v0.24	F13B	Louise Daugherty Source North West GLH was added to F13B.
18 Feb 2019	Bleeding and platelet disorders v0.24	F13A1	Louise Daugherty Source North West GLH was added to F13A1.
18 Feb 2019	Bleeding and platelet disorders v0.24	F12	Louise Daugherty Source North West GLH was added to F12.
18 Feb 2019	Bleeding and platelet disorders v0.24	F11	Louise Daugherty Source North West GLH was added to F11.
18 Feb 2019	Bleeding and platelet disorders v0.24	F10	Louise Daugherty Source North West GLH was added to F10.
18 Feb 2019	Bleeding and platelet disorders v0.24	ETV6	Louise Daugherty Source North West GLH was added to ETV6.
18 Feb 2019	Bleeding and platelet disorders v0.24	EPHB2	Louise Daugherty Source North West GLH was added to EPHB2.
18 Feb 2019	Bleeding and platelet disorders v0.24	ENG	Louise Daugherty Source North West GLH was added to ENG.
18 Feb 2019	Bleeding and platelet disorders v0.24	DTNBP1	Louise Daugherty Source North West GLH was added to DTNBP1.
18 Feb 2019	Bleeding and platelet disorders v0.24	DIAPH1	Louise Daugherty Source North West GLH was added to DIAPH1.
18 Feb 2019	Bleeding and platelet disorders v0.24	CYCS	Louise Daugherty Source North West GLH was added to CYCS.
18 Feb 2019	Bleeding and platelet disorders v0.24	CDC42	Louise Daugherty Source North West GLH was added to CDC42.
18 Feb 2019	Bleeding and platelet disorders v0.24	BLOC1S6	Louise Daugherty Source North West GLH was added to BLOC1S6.
18 Feb 2019	Bleeding and platelet disorders v0.24	BLOC1S3	Louise Daugherty Source North West GLH was added to BLOC1S3.
18 Feb 2019	Bleeding and platelet disorders v0.24	ARPC1B	Louise Daugherty Source North West GLH was added to ARPC1B.
18 Feb 2019	Bleeding and platelet disorders v0.24	AP3D1	Louise Daugherty Source North West GLH was added to AP3D1.
18 Feb 2019	Bleeding and platelet disorders v0.24	AP3B1	Louise Daugherty Source North West GLH was added to AP3B1.
18 Feb 2019	Bleeding and platelet disorders v0.24	ANO6	Louise Daugherty Source North West GLH was added to ANO6.
18 Feb 2019	Bleeding and platelet disorders v0.24	ANKRD26	Louise Daugherty Source North West GLH was added to ANKRD26.
18 Feb 2019	Bleeding and platelet disorders v0.24	ADAMTS13	Louise Daugherty Source North West GLH was added to ADAMTS13.
18 Feb 2019	Bleeding and platelet disorders v0.24	ACVRL1	Louise Daugherty Source North West GLH was added to ACVRL1.
18 Feb 2019	Bleeding and platelet disorders v0.24	ACTN1	Louise Daugherty Source North West GLH was added to ACTN1.
18 Feb 2019	Bleeding and platelet disorders v0.24	ACTB	Louise Daugherty Source North West GLH was added to ACTB.
18 Feb 2019	Bleeding and platelet disorders v0.24	ABCG8	Louise Daugherty Source North West GLH was added to ABCG8.
18 Feb 2019	Bleeding and platelet disorders v0.24	ABCG5	Louise Daugherty Source North West GLH was added to ABCG5.
18 Feb 2019	Combined factor V and VIII deficiency v0.19	MCFD2	Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
18 Feb 2019	Combined factor V and VIII deficiency v0.19	LMAN1	Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
18 Feb 2019	Monogenic hearing loss v1.86	CCDC50	Eleanor Williams Publications for gene: CCDC50 were set to PMID:12483295; 14527723; 16803894; 17503326
18 Feb 2019	Monogenic hearing loss v1.85	CCDC50	Eleanor Williams Mode of inheritance for gene: CCDC50 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Monogenic hearing loss v1.84	CCDC50	Eleanor Williams Classified gene: CCDC50 as Green List (high evidence)
18 Feb 2019	Monogenic hearing loss v1.84	CCDC50	Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. 3 cases reported in the literature.
18 Feb 2019	Monogenic hearing loss v1.84	CCDC50	Eleanor Williams Gene: ccdc50 has been classified as Green List (High Evidence).
18 Feb 2019	Combined factor V and VIII deficiency v0.18	MCFD2	Steve Keeney reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Combined factor V and VIII deficiency v0.18	LMAN1	Steve Keeney reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Intellectual disability v2.656	LNPK	Ivone Leong Classified gene: LNPK as Amber List (moderate evidence)
18 Feb 2019	Intellectual disability v2.656	LNPK	Ivone Leong Added comment: Comment on list classification: LNPK is associated with a phenotype in OMIM but not on Gene2Phenotype. It has been given an amber gene rating based on expert review. A watchlist tag has also been added.
18 Feb 2019	Intellectual disability v2.656	LNPK	Ivone Leong Gene: lnpk has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Monogenic hearing loss v1.83	CCDC50	Eleanor Williams commented on gene: CCDC50
18 Feb 2019	Intellectual disability v2.655	LNPK	Ivone Leong Tag watchlist tag was added to gene: LNPK.
18 Feb 2019	Combined factor V and VIII deficiency v0.17	MCFD2	Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: MCFD2
18 Feb 2019	Combined factor V and VIII deficiency v0.17	LMAN1	Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
18 Feb 2019	Combined factor V and VIII deficiency v0.16	MCFD2	Louise Daugherty Source North West GLH was added to MCFD2.
18 Feb 2019	Combined factor V and VIII deficiency v0.16	LMAN1	Louise Daugherty Source North West GLH was added to LMAN1.
18 Feb 2019	Intellectual disability v2.655	LNPK	Ivone Leong Phenotypes for gene: LNPK were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum; Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090
18 Feb 2019	Monogenic hearing loss v1.83	BDP1	Eleanor Williams commented on gene: BDP1
18 Feb 2019	Monogenic hearing loss v1.83	ATP2B2	Eleanor Williams commented on gene: ATP2B2
17 Feb 2019	Auditory Neuropathy Spectrum Disorde v1.8	DIAPH3	Eleanor Williams Publications for gene: DIAPH3 were set to
17 Feb 2019	Auditory Neuropathy Spectrum Disorde v1.7	DIAPH3	Eleanor Williams Mode of inheritance for gene: DIAPH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
17 Feb 2019	Auditory Neuropathy Spectrum Disorde v1.6	DIAPH3	Eleanor Williams Classified gene: DIAPH3 as Amber List (moderate evidence)
17 Feb 2019	Auditory Neuropathy Spectrum Disorde v1.6	DIAPH3	Eleanor Williams Added comment: Comment on list classification: 2 cases reported so changing rating from red to amber
17 Feb 2019	Auditory Neuropathy Spectrum Disorde v1.6	DIAPH3	Eleanor Williams Gene: diaph3 has been classified as Amber List (Moderate Evidence).
17 Feb 2019	Auditory Neuropathy Spectrum Disorde v1.5	DIAPH3	Eleanor Williams commented on gene: DIAPH3
17 Feb 2019	Monogenic hearing loss v1.83	DIAPH3	Eleanor Williams Publications for gene: DIAPH3 were set to PMID: 14767582; 15520414; 18755006; 19457867; 20624953
17 Feb 2019	Monogenic hearing loss v1.82	DIAPH3	Eleanor Williams Classified gene: DIAPH3 as Amber List (moderate evidence)
17 Feb 2019	Monogenic hearing loss v1.82	DIAPH3	Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber as there are now 2 reported cases.
17 Feb 2019	Monogenic hearing loss v1.82	DIAPH3	Eleanor Williams Gene: diaph3 has been classified as Amber List (Moderate Evidence).
17 Feb 2019	Monogenic hearing loss v1.81	DIAPH3	Eleanor Williams commented on gene: DIAPH3
17 Feb 2019	Monogenic hearing loss v1.81	NARS2	Eleanor Williams Publications for gene: NARS2 were set to
17 Feb 2019	Monogenic hearing loss v1.80	NARS2	Eleanor Williams Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Feb 2019	Monogenic hearing loss v1.79	CD164	Eleanor Williams Mode of inheritance for gene: CD164 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
17 Feb 2019	Monogenic hearing loss v1.78	CD164	Eleanor Williams Phenotypes for gene: CD164 were changed from to ?Deafness, autosomal dominant 66 616969
17 Feb 2019	Monogenic hearing loss v1.77	CD164	Eleanor Williams Publications for gene: CD164 were set to
17 Feb 2019	Monogenic hearing loss v1.76	KITLG	Eleanor Williams Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric 616697
17 Feb 2019	Monogenic hearing loss v1.75	KITLG	Eleanor Williams Publications for gene: KITLG were set to
17 Feb 2019	Monogenic hearing loss v1.74	KITLG	Eleanor Williams Classified gene: KITLG as Amber List (moderate evidence)
17 Feb 2019	Monogenic hearing loss v1.74	KITLG	Eleanor Williams Added comment: Comment on list classification: Changing rate from red to amber as there are 2 cases
17 Feb 2019	Monogenic hearing loss v1.74	KITLG	Eleanor Williams Gene: kitlg has been classified as Amber List (Moderate Evidence).
17 Feb 2019	Monogenic hearing loss v1.73	KITLG	Eleanor Williams commented on gene: KITLG
17 Feb 2019	Monogenic hearing loss v1.73	KITLG	Eleanor Williams Mode of inheritance for gene: KITLG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
17 Feb 2019	Monogenic hearing loss v1.72	SLC26A5	Eleanor Williams Classified gene: SLC26A5 as Green List (high evidence)
17 Feb 2019	Monogenic hearing loss v1.72	SLC26A5	Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as 3 unrelated cases now reported.
17 Feb 2019	Monogenic hearing loss v1.72	SLC26A5	Eleanor Williams Gene: slc26a5 has been classified as Green List (High Evidence).
17 Feb 2019	Monogenic hearing loss v1.71	SLC26A5	Eleanor Williams Publications for gene: SLC26A5 were set to PMC4185121 (PMID: 25262649); PMID:10821263; 11423665; 11867734; 12239568; 12719379; 16086836; 17998209; 18776049; 19492055; 21689600; 23212912; 24164807; 25262649
17 Feb 2019	Monogenic hearing loss v1.70	SLC26A5	Eleanor Williams commented on gene: SLC26A5
17 Feb 2019	Monogenic hearing loss v1.70	SYNE4	Eleanor Williams Classified gene: SYNE4 as Green List (high evidence)
17 Feb 2019	Monogenic hearing loss v1.70	SYNE4	Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are 3 unrelated cases
17 Feb 2019	Monogenic hearing loss v1.70	SYNE4	Eleanor Williams Gene: syne4 has been classified as Green List (High Evidence).
17 Feb 2019	Monogenic hearing loss v1.69	SYNE4	Eleanor Williams Publications for gene: SYNE4 were set to
17 Feb 2019	Monogenic hearing loss v1.68	SYNE4	Eleanor Williams Mode of inheritance for gene: SYNE4 was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Feb 2019	Monogenic hearing loss v1.67	SYNE4	Eleanor Williams commented on gene: SYNE4
17 Feb 2019	Intellectual disability v2.654	CUX1	Konstantinos Varvagiannis gene: CUX1 was added gene: CUX1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 30014507; 20510857; 25059644 Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330 Penetrance for gene: CUX1 were set to unknown Review for gene: CUX1 was set to GREEN gene: CUX1 was marked as current diagnostic Added comment: Heterozygous pathogenic variants in CUX1 cause Global developmental delay with or without impaired intellectual development (MIM 618330). Platzer et al. (2018 - PMID: 30014507) report on 9 individuals from 7 families with heterozygous null-allele variants in CUX1. All individuals displayed DD (speech delay 9/9 - motor delay 7/9 - hypotonia 3/7 for whom this information was available). Mild/moderate ID was a feature in 5/8. Catch up was observed in 3/8 individuals who - despite a history of previous significant DD - displayed a normal age-related intelligence. For 1/9 individual (Decipher 338131) information on eventual ID was unavailable. Overall the phenotype was compatible with non-syndromic DD with possible ID. CUX1 encodes Cut homebox-1 transcription factor. 5 LoF variants (Gln21, Gln800Argfs19, Gln873, Ala1067Cysfs3, Leu1262Argfs10) and 2 intragenic deletions (deletion of exons 9-24 in one subject and 3-24 in another) are reported. In 6/9 individuals the variant (SNV/CNV) had occurred as a de novo event. Mosaic de novo intragenic deletion was reported for the subject from Decipher. In one family 2 sibs with mild ID had inherited a LoF variant from their affected mother with moderate ID (origin of the variant unknown in her case). Leu1262Argfs10 lies in the penultimate exon (NM_001202543.1 used as ref.) and is presumed to escape NMD. Expression studies (or functional studies) are not performed for any of the variants. As Gln800Argfs*19, found in one subject with mild ID in the present study, has been reported once in gnomAD, and given the presence of 12 individuals overall with LoF variants in the specific database, plausible explanations are discussed (among others : mild phenotype, incomplete penetrance, somatic mosaicism, exclusion of individuals with severe early-onset disorders in gnomAD, etc). Given the reported variants, the probability of LoF intolerance (pLI:1.00), and the haploinsufficiency score (% HI) of 7.19, haploinsufficiency is thought to be the underlying mechanism. CUX1 however appears to be intolerant also to missense SNVs (z-score : 5.05). Mouse models suggest a role for Cux1 in brain development and signaling. As the authors note, Cux1 (similar to its paralog, Cux2) is selectively expressed in layer II to IV cortical neurons. In Cux1-deficient mice, dendrites display a simpler morphology with decrease in dendritic length and number of branches (PMIDs cited: 20510857, 25059644). (MGI db for Cux1 - http://www.informatics.jax.org/marker/MGI:88568 : "Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters"). Finally, heterozygous mutations in CUX2, encoding cut-like homeobox-2 transcription factor, cause Epileptic encephalopathy, early infantile, 67 (MIM 618141 - in all cases reported to date due to a recurrent missense variant. Gene rated green in the current panel). ------- CUX1 is not associated with any phenotype in G2P. This gene is included in panels for ID offered by diagnostic laboratories (incl. Radboudumc). ------- As a result, CUX1 can be considered for inclusion in the ID panel as green (or amber). Sources: Literature, Radboud University Medical Center, Nijmegen
17 Feb 2019	Monogenic hearing loss v1.67	SLC26A5	Emma Ashton reviewed gene: SLC26A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24164807, 6824437, 26969326; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.67	SYNE4	Emma Ashton edited their review of gene: SYNE4: Added comment: (Homozygous frameshift, 1 family, both parents confirmed carriers in our lab): Horn et al (2013) PMID 23348741 two families of Iraqi Jewish origin with same 2bp deletion. Masterton et al (2018) PMID 28958982 two siblings in one family homozygous -1G>T.; Changed publications: 23348741, 28958982
17 Feb 2019	Monogenic hearing loss v1.66	S1PR2	Eleanor Williams Classified gene: S1PR2 as Green List (high evidence)
17 Feb 2019	Monogenic hearing loss v1.66	S1PR2	Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Variants in 3 independent families reported.
17 Feb 2019	Monogenic hearing loss v1.66	S1PR2	Eleanor Williams Gene: s1pr2 has been classified as Green List (High Evidence).
17 Feb 2019	Monogenic hearing loss v1.65	S1PR2	Eleanor Williams Phenotypes for gene: S1PR2 were changed from to Deafness, autosomal recessive 68 610419
17 Feb 2019	Monogenic hearing loss v1.64	S1PR2	Eleanor Williams Publications for gene: S1PR2 were set to
17 Feb 2019	Monogenic hearing loss v1.63	S1PR2	Eleanor Williams Mode of inheritance for gene: S1PR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Feb 2019	Monogenic hearing loss v1.62	S1PR2	Eleanor Williams Deleted their comment
17 Feb 2019	Monogenic hearing loss v1.62	S1PR2	Eleanor Williams commented on gene: S1PR2: Associated with Deafness, autosomal recessive 68 (MIM 610419) in OMIM. Three independent reports of variants in this gene associated with hearing loss: 1) 2 consanguineous Pakistani families in Santos-Cortez (2016) PMID 26805784 2) 1 consangiuneous Iranian family in Hofrichter et al (2018) PMID 29776397 3) 1 family from GOSH lab
17 Feb 2019	Monogenic hearing loss v1.62	S1PR2	Eleanor Williams commented on gene: S1PR2
17 Feb 2019	Monogenic hearing loss v1.62	OTOGL	Eleanor Williams Mode of inheritance for gene: OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Feb 2019	Monogenic hearing loss v1.61	OTOGL	Eleanor Williams Classified gene: OTOGL as Green List (high evidence)
17 Feb 2019	Monogenic hearing loss v1.61	OTOGL	Eleanor Williams Added comment: Comment on list classification: Promoting from red to green as two families reported in PMID: 23122586 plus one reported by GOSH.
17 Feb 2019	Monogenic hearing loss v1.61	OTOGL	Eleanor Williams Gene: otogl has been classified as Green List (High Evidence).
17 Feb 2019	Monogenic hearing loss v1.60	OTOGL	Eleanor Williams Publications for gene: OTOGL were set to
17 Feb 2019	Monogenic hearing loss v1.59	OTOGL	Eleanor Williams commented on gene: OTOGL
17 Feb 2019	Monogenic hearing loss v1.59	TSPEAR	Emma Ashton reviewed gene: TSPEAR: Rating: AMBER; Mode of pathogenicity: ; Publications: 26969326, 2678063; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	TNC	Emma Ashton reviewed gene: TNC: Rating: AMBER; Mode of pathogenicity: ; Publications: 23936043; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	TJP2	Emma Ashton reviewed gene: TJP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24752540; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	SLC17A8	Emma Ashton reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	RPGR	Emma Ashton reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	MIR96	Emma Ashton reviewed gene: MIR96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	HGF	Emma Ashton reviewed gene: HGF: Rating: AMBER; Mode of pathogenicity: ; Publications: 19576567, 27610647; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	HARS2	Emma Ashton reviewed gene: HARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27650058; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	HARS	Emma Ashton reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	GJB6	Emma Ashton reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	DIAPH1	Emma Ashton reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	DIABLO	Emma Ashton reviewed gene: DIABLO: Rating: AMBER; Mode of pathogenicity: ; Publications: 21722859, 26969326; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	CRYM	Emma Ashton reviewed gene: CRYM: Rating: AMBER; Mode of pathogenicity: ; Publications: 420014; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	CEACAM16	Emma Ashton reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: ; Publications: 21368133, 25589040, 26648831; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	CCDC50	Emma Ashton reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: ; Publications: 24875298, 27911912, 27068579, 17503326; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	BDP1	Emma Ashton reviewed gene: BDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	ATP2B2	Emma Ashton reviewed gene: ATP2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	DIAPH3	Emma Ashton reviewed gene: DIAPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20624953, 27658576; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	NARS2	Emma Ashton reviewed gene: NARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	CD164	Emma Ashton reviewed gene: CD164: Rating: RED; Mode of pathogenicity: ; Publications: 26197441; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	KITLG	Emma Ashton reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522471, 28504826; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	SYNE4	Emma Ashton reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24164807, 6824437 ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	SIX5	Emma Ashton reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	S1PR2	Emma Ashton reviewed gene: S1PR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805784, 29776397; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.59	OTOGL	Emma Ashton reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Feb 2019	Monogenic hearing loss v1.58	NARS2	Eleanor Williams gene: NARS2 was added gene: NARS2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: NARS2 was set to Unknown Added comment: Added at suggestion of Emma Ashton, GOSH Sources: Expert list
17 Feb 2019	Monogenic hearing loss v1.57	CD164	Eleanor Williams gene: CD164 was added gene: CD164 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: CD164 was set to Unknown Added comment: Added at suggestion of Emma Ashton, GOSH Sources: Expert list
16 Feb 2019	Congenital fibrosis of the extraocular muscles v0.6	COL25A1	Anna de Burca gene: COL25A1 was added gene: COL25A1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 25500261 Phenotypes for gene: COL25A1 were set to Fibrosis of extraocular muscles, congenital, 5 Review for gene: COL25A1 was set to AMBER Added comment: PMID:25500261 reports a consanguineous family with a homozygous missense variant in COL25A1 and a second simplex compound heterozygote for a nonsense mutation and a 12.4 kb deletion spanning exons 4–10 of COL25A1. All affected individuals had features of congenital cranial dysinnervation disorder. Sources: Literature
16 Feb 2019	Congenital fibrosis of the extraocular muscles v0.5	PHOX2A	Anna de Burca gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2A were set to 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 Review for gene: PHOX2A was set to AMBER Added comment: Gene also known as ARIX. Sources: Literature
16 Feb 2019	Congenital fibrosis of the extraocular muscles v0.4	KIF21A	Anna de Burca gene: KIF21A was added gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 15621876 Phenotypes for gene: KIF21A were set to Congenital fibrosis of the extraocular muscles Review for gene: KIF21A was set to GREEN Added comment: Heterozygous missense variants identified in multiple unrelated families of different ethnicities. Arginine 954 appears to represent a mutational hotspot, although other missense variants have also been reported. Sources: Literature
16 Feb 2019	Congenital fibrosis of the extraocular muscles v0.3	TUBB2B	Anna de Burca gene: TUBB2B was added gene: TUBB2B was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2B were set to 11425694; 23001566 Phenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7 Review for gene: TUBB2B was set to AMBER Added comment: The association between TUBB2B and polymicrogyria is well documented but in addition PIMD:11425694 and 23001566 report the same two generation family where the mother and two daughters have polymicrogyria, intellectual disability and CFEOM. A missense variant in TUBB2B was present in the mother and two affected daughters and absent in the father and two unaffected siblings. In vitro functional studies showed altered microtubule dynamics. Sources: Literature
16 Feb 2019	Congenital fibrosis of the extraocular muscles v0.2	TUBB3	Anna de Burca gene: TUBB3 was added gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CFEOM3A Review for gene: TUBB3 was set to AMBER Added comment: Sources: Literature
15 Feb 2019	Intellectual disability v2.654	LINS1	Ivone Leong Phenotypes for gene: LINS1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Mental retardation, autosomal recessive 27, 614340
15 Feb 2019	Intellectual disability v2.653	LINS1	Ivone Leong Publications for gene: LINS1 were set to
15 Feb 2019	Intellectual disability v2.652	LINGO1	Ivone Leong Classified gene: LINGO1 as Amber List (moderate evidence)
15 Feb 2019	Intellectual disability v2.652	LINGO1	Ivone Leong Added comment: Comment on list classification: Gave LINO1 amber gene rating based on review by Konstantinos Varvagiannis (Other). Have so added the 'watchilist' tag.
15 Feb 2019	Intellectual disability v2.652	LINGO1	Ivone Leong Gene: lingo1 has been classified as Amber List (Moderate Evidence).
15 Feb 2019	Intellectual disability v2.651	LINGO1	Ivone Leong Tag watchlist tag was added to gene: LINGO1.
15 Feb 2019	Bardet Biedl syndrome v0.2	WDPCP	Ivone Leong gene: WDPCP was added gene: WDPCP was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992
15 Feb 2019	Bardet Biedl syndrome v0.2	TTC8	Ivone Leong gene: TTC8 was added gene: TTC8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC8 were set to Bardet Biedl syndrome 8, 615985
15 Feb 2019	Bardet Biedl syndrome v0.2	TMEM67	Ivone Leong gene: TMEM67 was added gene: TMEM67 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}, 615991
15 Feb 2019	Bardet Biedl syndrome v0.2	SDCCAG8	Ivone Leong gene: SDCCAG8 was added gene: SDCCAG8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl Syndrome, 615993
15 Feb 2019	Bardet Biedl syndrome v0.2	MKS1	Ivone Leong gene: MKS1 was added gene: MKS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Bardet-Biedl syndrome 13, 615990
15 Feb 2019	Bardet Biedl syndrome v0.2	MKKS	Ivone Leong gene: MKKS was added gene: MKKS was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6, 236700
15 Feb 2019	Bardet Biedl syndrome v0.2	LZTFL1	Ivone Leong gene: LZTFL1 was added gene: LZTFL1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS9	Ivone Leong gene: BBS9 was added gene: BBS9 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet Biedl syndrome 9, 615986
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS7	Ivone Leong gene: BBS7 was added gene: BBS7 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7, 615984
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS5	Ivone Leong gene: BBS5 was added gene: BBS5 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Bardet Biedl syndrome 5, 615983
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS4	Ivone Leong gene: BBS4 was added gene: BBS4 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet Biedl syndrome 4, 615982
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS2	Ivone Leong gene: BBS2 was added gene: BBS2 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to Bardet Biedl syndrome 2, 615981
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS12	Ivone Leong gene: BBS12 was added gene: BBS12 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS10	Ivone Leong gene: BBS10 was added gene: BBS10 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987
15 Feb 2019	Bardet Biedl syndrome v0.2	BBS1	Ivone Leong gene: BBS1 was added gene: BBS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to Bardet Biedl syndrome 1, 209900
15 Feb 2019	Bardet Biedl syndrome v0.2	ARL6	Ivone Leong gene: ARL6 was added gene: ARL6 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151
15 Feb 2019	Bardet Biedl syndrome v0.2	ALMS1	Ivone Leong gene: ALMS1 was added gene: ALMS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800; Bardet-Biedl Syndrome
15 Feb 2019	Anophthalmia or microphthalmia v1.17	PAX2	Ivone Leong Classified gene: PAX2 as Green List (high evidence)
15 Feb 2019	Anophthalmia or microphthalmia v1.17	PAX2	Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review.
15 Feb 2019	Anophthalmia or microphthalmia v1.17	PAX2	Ivone Leong Gene: pax2 has been classified as Green List (High Evidence).
15 Feb 2019	Structural eye disease v0.9	PAX2	Ivone Leong Publications for gene: PAX2 were set to 8589702
15 Feb 2019	Congenital hyperinsulinism v1.39	INSR	Ivone Leong Classified gene: INSR as Green List (high evidence)
15 Feb 2019	Congenital hyperinsulinism v1.39	INSR	Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
15 Feb 2019	Congenital hyperinsulinism v1.39	INSR	Ivone Leong Gene: insr has been classified as Green List (High Evidence).
15 Feb 2019	Congenital hyperinsulinism v1.38	TRMT10A	Jayne Houghton reviewed gene: TRMT10A: Rating: RED; Mode of pathogenicity: ; Publications: 25053765; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Congenital hyperinsulinism v1.38	MAFA	Jayne Houghton reviewed gene: MAFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Congenital hyperinsulinism v1.38	INSR	Jayne Houghton commented on gene: INSR: We have identified 5 individuals with heterozygous dominant negative INSR variants from 4 different families here in Exeter.
15 Feb 2019	Monogenic diabetes v1.1	ZBTB20	Jayne Houghton reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: 25017102, 22374165; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Monogenic diabetes v1.1	PLIN1	Jayne Houghton reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21345103, 21345103, 21345103, 30020498, 11371650, 25695774; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Monogenic diabetes v1.1	PCBD1	Jayne Houghton reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24848070, 24204001; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Monogenic diabetes v1.1	DCAF17	Jayne Houghton reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 24464444; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Monogenic diabetes v1.1	CEL	Jayne Houghton reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 27650499, 25160620; Phenotypes: ; Mode of inheritance:
15 Feb 2019	Hypertrophic cardiomyopathy v1.42	MYH7	James Eden Deleted their comment
15 Feb 2019	Hypertrophic cardiomyopathy v1.42	MYH7	James Eden commented on gene: MYH7: Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019). See attached MYH7 guidelines (Kelly et al 2018), truncating variants are not a recognised mechanism for disease.
15 Feb 2019	Hypertrophic cardiomyopathy v1.42	GLA	James Eden edited their review of gene: GLA: Changed publications: 28369730, 27532257, 29649853, 27225851
15 Feb 2019	Hypertrophic cardiomyopathy v1.42	MYH7	James Eden Deleted their comment
15 Feb 2019	Hypertrophic cardiomyopathy v1.42	MYH7	James Eden edited their review of gene: MYH7: Added comment: Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019). See attached MYH7 guidelines (Kelly et al 2018), LOF is not a mechanism for disease.; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
15 Feb 2019	Hypertrophic cardiomyopathy v1.42	MYH7	James Eden edited their review of gene: MYH7: Changed publications: 28369730, 27532257, 29300372
15 Feb 2019	Catecholaminergic polymorphic VT v1.6	RYR2	James Eden edited their review of gene: RYR2: Changed publications: 19121813, 27761157, 16391617
15 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.44	TNNI3	James Eden edited their review of gene: TNNI3: Changed publications: 20186049, 27532257, 21533915
15 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.44	TNNT2	James Eden edited their review of gene: TNNT2: Changed publications: 20186049, 27532257, 20031601
15 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.44	TTN	James Eden Deleted their comment
15 Feb 2019	Dilated Cardiomyopathy and conduction defects v1.44	TTN	James Eden edited their review of gene: TTN: Added comment: Gene currently tested on Manchester cardiac gene panel. 346 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).; Changed publications: 20186049, 27532257, 22335739, 25589632, 29238064, 26777568
14 Feb 2019	Intellectual disability v2.651	PHACTR1	Eleanor Williams commented on gene: PHACTR1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.26	TP53	Louise Daugherty Mode of inheritance for gene: TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.25	TP53	Louise Daugherty Classified gene: TP53 as Green List (high evidence)
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.25	TP53	Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence).
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.24	MYSM1	Louise Daugherty Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.23	MYSM1	Louise Daugherty Classified gene: MYSM1 as Amber List (moderate evidence)
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.23	MYSM1	Louise Daugherty Gene: mysm1 has been classified as Amber List (Moderate Evidence).
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.22	FYB1	Louise Daugherty Mode of inheritance for gene: FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.21	FYB1	Louise Daugherty Classified gene: FYB1 as Green List (high evidence)
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.21	FYB1	Louise Daugherty Gene: fyb1 has been classified as Green List (High Evidence).
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.20	CYCS	Louise Daugherty Mode of inheritance for gene: CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.19	CYCS	Louise Daugherty Classified gene: CYCS as Green List (high evidence)
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.19	CYCS	Louise Daugherty Gene: cycs has been classified as Green List (High Evidence).
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	WRAP53	Louise Daugherty commented on gene: WRAP53: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WRAP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 300299 Neutropenia, severe congenital, X-linked; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	WAS	Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 313900 Thrombocytopenia, X-linked; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	VPS45	Louise Daugherty commented on gene: VPS45: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	USB1	Louise Daugherty commented on gene: USB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: USB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604173 Poikiloderma with neutropenia; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	TP53	Louise Daugherty reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	TINF2	Louise Daugherty commented on gene: TINF2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	THPO	Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 187950 Thrombocythemia 1; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	TERT	Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	TERC	Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	TAZ	Louise Daugherty commented on gene: TAZ: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TAZ; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 302060 Barth syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	SRP72	Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614675 Bone marrow failure syndrome 1; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	SBDS	Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	SAMD9L	Louise Daugherty commented on gene: SAMD9L: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9L; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 159550 Ataxia-pancytopenia syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	SAMD9	Louise Daugherty commented on gene: SAMD9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SAMD9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617053 MIRAGE syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	RTEL1	Louise Daugherty commented on gene: RTEL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RTEL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	RBM8A	Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	PARN	Louise Daugherty commented on gene: PARN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PARN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	NBN	Louise Daugherty commented on gene: NBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBN; Suggested initial gene rating: not submitted ; Are variants in this gene part of your current diagnostic practice? info not submitted; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 251260 Nijmegen breakage syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	MYSM1	Louise Daugherty reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	MPL	Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	MECOM	Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	JAGN1	Louise Daugherty commented on gene: JAGN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: JAGN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	HOXA11	Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	HAX1	Louise Daugherty commented on gene: HAX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	GFI1	Louise Daugherty commented on gene: GFI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	GATA2	Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614038 Emberger syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 314050 Thrombocytopenia with beta-thalassemia, X-linked; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	G6PC3	Louise Daugherty commented on gene: G6PC3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PC3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	FYB1	Louise Daugherty reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	ETV6	Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	ERCC6L2	Louise Daugherty commented on gene: ERCC6L2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC6L2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615715 Bone marrow failure syndrome 2; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	ELANE	Louise Daugherty commented on gene: ELANE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ELANE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	EFL1	Louise Daugherty commented on gene: EFL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EFL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617941 Shwachman-Diamond syndrome 2; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	DNAJC21	Louise Daugherty commented on gene: DNAJC21: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DNAJC21; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617052 Bone marrow failure syndrome 3; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	DKC1	Louise Daugherty commented on gene: DKC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 305000 Dyskeratosis congenita; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	CYCS	Louise Daugherty reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	CXCR4	Louise Daugherty commented on gene: CXCR4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 193670 WHIM syndrome; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	CTC1	Louise Daugherty commented on gene: CTC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Dyskeratosis congenita; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	CSF3R	Louise Daugherty commented on gene: CSF3R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CSF3R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	ANKRD26	Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.18	ACD	Louise Daugherty commented on gene: ACD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): none submitted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	WRAP53	Mandy nesbitt reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300299 Neutropenia, severe congenital, X-linked; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	WAS	Mandy nesbitt reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 313900 Thrombocytopenia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	VPS45	Mandy nesbitt reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	USB1	Mandy nesbitt reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604173 Poikiloderma with neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	TP53	Mandy nesbitt reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618165 Bone marrow failure syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	TINF2	Mandy nesbitt reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	THPO	Mandy nesbitt reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	TERT	Mandy nesbitt reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	TERC	Mandy nesbitt reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure, 129550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	TAZ	Mandy nesbitt reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 302060 Barth syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	SRP72	Mandy nesbitt reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	SBDS	Mandy nesbitt reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	SAMD9L	Mandy nesbitt reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 159550 Ataxia-pancytopenia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	SAMD9	Mandy nesbitt reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617053 MIRAGE syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	RTEL1	Mandy nesbitt reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	RBM8A	Mandy nesbitt reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	PARN	Mandy nesbitt reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	NBN	Mandy nesbitt reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 251260 Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	MYSM1	Mandy nesbitt reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 618116 Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	MPL	Mandy nesbitt reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	MECOM	Mandy nesbitt reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	JAGN1	Mandy nesbitt reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616022 Neutropenia, severe congenital, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	HOXA11	Mandy nesbitt reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	HAX1	Mandy nesbitt reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610738 Neutropenia, severe congenital 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	GFI1	Mandy nesbitt reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	GATA2	Mandy nesbitt reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	GATA1	Mandy nesbitt reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 314050 Thrombocytopenia with beta-thalassemia, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	G6PC3	Mandy nesbitt reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612541 Neutropenia, severe congenital 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	FYB1	Mandy nesbitt reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	ETV6	Mandy nesbitt reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	ERCC6L2	Mandy nesbitt reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615715 Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	ELANE	Mandy nesbitt reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202700 Neutropenia, severe congenital 1, autosomal dominant, 162800 Neutropenia, cyclic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	EFL1	Mandy nesbitt reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617941 Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	DNAJC21	Mandy nesbitt reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617052 Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	DKC1	Mandy nesbitt reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	CYCS	Mandy nesbitt reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	CXCR4	Mandy nesbitt reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	CTC1	Mandy nesbitt reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	CSF3R	Mandy nesbitt reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617014 Neutropenia, severe congenital, 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	ANKRD26	Mandy nesbitt reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.17	ACD	Mandy nesbitt reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	WRAP53	Louise Daugherty Added phenotypes 300299 Neutropenia, severe congenital, X-linked for gene: WRAP53
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	WAS	Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked for gene: WAS
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	VPS45	Louise Daugherty Added phenotypes 615285 Neutropenia, severe congenital, 5, autosomal recessive for gene: VPS45
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	USB1	Louise Daugherty Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	TP53	Louise Daugherty Added phenotypes 618165 Bone marrow failure syndrome 5 for gene: TP53
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	TINF2	Louise Daugherty Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3 for gene: TINF2
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	THPO	Louise Daugherty Added phenotypes 187950 Thrombocythemia 1 for gene: THPO
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	TERT	Louise Daugherty Added phenotypes 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} for gene: TERT
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	TERC	Louise Daugherty Added phenotypes 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	TAZ	Louise Daugherty Added phenotypes 302060 Barth syndrome for gene: TAZ
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	SRP72	Louise Daugherty Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	SBDS	Louise Daugherty Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	SAMD9L	Louise Daugherty Added phenotypes 159550 Ataxia-pancytopenia syndrome for gene: SAMD9L
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	SAMD9	Louise Daugherty Added phenotypes 617053 MIRAGE syndrome for gene: SAMD9
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	RTEL1	Louise Daugherty Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RTEL1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	RBM8A	Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	PARN	Louise Daugherty Added phenotypes 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; 616353 Dyskeratosis congenita, autosomal recessive 6 for gene: PARN
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	NBN	Louise Daugherty Added phenotypes 251260 Nijmegen breakage syndrome for gene: NBN
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	MYSM1	Louise Daugherty Added phenotypes 618116 Bone marrow failure syndrome 4 for gene: MYSM1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	MPL	Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	MECOM	Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	JAGN1	Louise Daugherty Added phenotypes 616022 Neutropenia, severe congenital, 6, autosomal recessive for gene: JAGN1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	HOXA11	Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	HAX1	Louise Daugherty Added phenotypes 610738 Neutropenia, severe congenital 3, autosomal recessive for gene: HAX1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	GFI1	Louise Daugherty Added phenotypes 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults for gene: GFI1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	GATA2	Louise Daugherty Added phenotypes 614038 Emberger syndrome for gene: GATA2
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	GATA1	Louise Daugherty Added phenotypes 314050 Thrombocytopenia with beta-thalassemia, X-linked for gene: GATA1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	G6PC3	Louise Daugherty Added phenotypes 612541 Neutropenia, severe congenital 4, autosomal recessive for gene: G6PC3
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	FYB1	Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	ETV6	Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	ERCC6L2	Louise Daugherty Added phenotypes 615715 Bone marrow failure syndrome 2 for gene: ERCC6L2
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	ELANE	Louise Daugherty Added phenotypes 202700 Neutropenia, severe congenital 1, autosomal dominant; 162800 Neutropenia, cyclic for gene: ELANE
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	EFL1	Louise Daugherty Added phenotypes 617941 Shwachman-Diamond syndrome 2 for gene: EFL1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	DNAJC21	Louise Daugherty Added phenotypes 617052 Bone marrow failure syndrome 3 for gene: DNAJC21
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	DKC1	Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	CYCS	Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	CXCR4	Louise Daugherty Added phenotypes 193670 WHIM syndrome for gene: CXCR4
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	CTC1	Louise Daugherty Added phenotypes Dyskeratosis congenita for gene: CTC1
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	CSF3R	Louise Daugherty Added phenotypes 617014 Neutropenia, severe congenital, 7, autosomal recessive for gene: CSF3R
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	ANKRD26	Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.16	ACD	Louise Daugherty Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.15	TP53	Louise Daugherty Source NHS GMS was added to TP53.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.15	MYSM1	Louise Daugherty Source NHS GMS was added to MYSM1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.15	FYB1	Louise Daugherty Source NHS GMS was added to FYB1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.15	CYCS	Louise Daugherty Source NHS GMS was added to CYCS.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	WRAP53	Louise Daugherty Source Yorkshire and North East GLH was added to WRAP53.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	WAS	Louise Daugherty Source Yorkshire and North East GLH was added to WAS.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	VPS45	Louise Daugherty Source Yorkshire and North East GLH was added to VPS45.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	USB1	Louise Daugherty Source Yorkshire and North East GLH was added to USB1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	TP53	Louise Daugherty gene: TP53 was added gene: TP53 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: TP53 was set to
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	TINF2	Louise Daugherty Source Yorkshire and North East GLH was added to TINF2.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	THPO	Louise Daugherty Source Yorkshire and North East GLH was added to THPO.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	TERT	Louise Daugherty Source Yorkshire and North East GLH was added to TERT.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	TERC	Louise Daugherty Source Yorkshire and North East GLH was added to TERC.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	TAZ	Louise Daugherty Source Yorkshire and North East GLH was added to TAZ.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	SRP72	Louise Daugherty Source Yorkshire and North East GLH was added to SRP72.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	SBDS	Louise Daugherty Source Yorkshire and North East GLH was added to SBDS.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	SAMD9L	Louise Daugherty Source Yorkshire and North East GLH was added to SAMD9L.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	SAMD9	Louise Daugherty Source Yorkshire and North East GLH was added to SAMD9.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	RTEL1	Louise Daugherty Source Yorkshire and North East GLH was added to RTEL1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	RBM8A	Louise Daugherty Source Yorkshire and North East GLH was added to RBM8A.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	PARN	Louise Daugherty Source Yorkshire and North East GLH was added to PARN.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	NBN	Louise Daugherty Source Yorkshire and North East GLH was added to NBN.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	MYSM1	Louise Daugherty gene: MYSM1 was added gene: MYSM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MYSM1 was set to
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	MPL	Louise Daugherty Source Yorkshire and North East GLH was added to MPL.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	MECOM	Louise Daugherty Source Yorkshire and North East GLH was added to MECOM.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	JAGN1	Louise Daugherty Source Yorkshire and North East GLH was added to JAGN1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	HOXA11	Louise Daugherty Source Yorkshire and North East GLH was added to HOXA11.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	HAX1	Louise Daugherty Source Yorkshire and North East GLH was added to HAX1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	GFI1	Louise Daugherty Source Yorkshire and North East GLH was added to GFI1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	GATA2	Louise Daugherty Source Yorkshire and North East GLH was added to GATA2.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	GATA1	Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	G6PC3	Louise Daugherty Source Yorkshire and North East GLH was added to G6PC3.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	FYB1	Louise Daugherty gene: FYB1 was added gene: FYB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: FYB1 was set to
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	ETV6	Louise Daugherty Source Yorkshire and North East GLH was added to ETV6.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	ERCC6L2	Louise Daugherty Source Yorkshire and North East GLH was added to ERCC6L2.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	ELANE	Louise Daugherty Source Yorkshire and North East GLH was added to ELANE.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	EFL1	Louise Daugherty Source Yorkshire and North East GLH was added to EFL1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	DNAJC21	Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC21.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	DKC1	Louise Daugherty Source Yorkshire and North East GLH was added to DKC1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	CYCS	Louise Daugherty gene: CYCS was added gene: CYCS was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CYCS was set to
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	CXCR4	Louise Daugherty Source Yorkshire and North East GLH was added to CXCR4.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	CTC1	Louise Daugherty Source Yorkshire and North East GLH was added to CTC1.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	CSF3R	Louise Daugherty Source Yorkshire and North East GLH was added to CSF3R.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	ANKRD26	Louise Daugherty Source Yorkshire and North East GLH was added to ANKRD26.
14 Feb 2019	Cytopenia - NOT Fanconi anaemia v0.14	ACD	Louise Daugherty Source Yorkshire and North East GLH was added to ACD.
14 Feb 2019	Intellectual disability v2.651	TCF20	Konstantinos Varvagiannis edited their review of gene: TCF20: Added comment: PMID: 30739909 (Torti et al. 2019) provides information on 27 new individuals and compares with the phenotype of 17 previously reported individuals. DD/ID was an almost universal feature (27/27 or 43/44 when considering all previously published cases).; Changed publications: 30739909, 27436265, 25228304, 28135719, 27479843, 28333917, 28554332, 30525188
14 Feb 2019	Intellectual disability v2.651	SLC35A3	Rebecca Foulger Tag watchlist tag was added to gene: SLC35A3.
14 Feb 2019	Intellectual disability v2.651	SLC35A3	Rebecca Foulger commented on gene: SLC35A3: Added watchlist tag.
14 Feb 2019	Early onset or syndromic epilepsy v1.16	SLC35A3	Rebecca Foulger commented on gene: SLC35A3: Added watchlist tag.
14 Feb 2019	Early onset or syndromic epilepsy v1.16	SLC35A3	Rebecca Foulger Tag watchlist tag was added to gene: SLC35A3.
14 Feb 2019	Early onset or syndromic epilepsy v1.16	SLC35A3	Rebecca Foulger Classified gene: SLC35A3 as Amber List (moderate evidence)
14 Feb 2019	Early onset or syndromic epilepsy v1.16	SLC35A3	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Gene was added to panel and rated Green by Konstantinos Varvagiannis. 1 case (multiple individuals from Ashkenazi Jewish kindred) in PMID:24031089 with epilepsy in many individuals. A second epilepsy case comes from PMID:28328131 (Marini et al. 2017). Epilepsy is not recorded in the SLC35A3‐related skeletal dysplasia patient from PMID:28777481 who died at 21days. ClinVar submissions weren't included as additional cases as individual phenotypes were not recorded. Therefore rated Amber awaiting further published or clinical cases.
14 Feb 2019	Early onset or syndromic epilepsy v1.16	SLC35A3	Rebecca Foulger Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
14 Feb 2019	Early onset or syndromic epilepsy v1.15	SLC35A3	Rebecca Foulger commented on gene: SLC35A3: The 2013 (SCV000108589.2) and 2016 (SCV000699337.1) ClinVar submissions reported in the review by Konstantinos Varvagiannis link to the same publication: Edvardson et al. (2013, PMID:24031089).
14 Feb 2019	Early onset or syndromic epilepsy v1.15	SLC35A3	Rebecca Foulger Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures (MIM 615553) to ?Arthrogryposis, mental retardation, and seizures (MIM 615553); Early onset epileptic encephalopathy with skeletal defects
14 Feb 2019	Early onset or syndromic epilepsy v1.14	SLC35A3	Rebecca Foulger commented on gene: SLC35A3: Marini et al. 2017 (PMID: 28328131) provide a second case. They report a non-consanguineous Italian family with two siblings manifesting severe EE. Both siblings exhibited infantile spasms associated with focal and tonic seizures from early infancy. In addition, both had quadriplegia, acquired microcephaly and severe ID. WGS identified novel compound het variants in SLC35A3 in both children.
14 Feb 2019	Early onset or syndromic epilepsy v1.14	SLC35A3	Rebecca Foulger commented on gene: SLC35A3
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.15	XRCC2	Louise Daugherty Mode of inheritance for gene: XRCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.14	XRCC2	Louise Daugherty Classified gene: XRCC2 as Amber List (moderate evidence)
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.14	XRCC2	Louise Daugherty Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.13	MAD2L2	Louise Daugherty Mode of inheritance for gene: MAD2L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.12	MAD2L2	Louise Daugherty Classified gene: MAD2L2 as Amber List (moderate evidence)
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.12	MAD2L2	Louise Daugherty Gene: mad2l2 has been classified as Amber List (Moderate Evidence).
14 Feb 2019	Intellectual disability v2.651	SLC35A3	Rebecca Foulger Classified gene: SLC35A3 as Amber List (moderate evidence)
14 Feb 2019	Intellectual disability v2.651	SLC35A3	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Gene was added to panel and rated Green by Konstantinos Varvagiannis. 1 case (multiple individuals from Ashkenazi Jewish kindred) in PMID:24031089. A second case comes from PMID:28328131 (Marini et al. 2017). ID is not recorded in the SLC35A3‐related skeletal dysplasia patient from PMID:28777481 who died at 21days. ClinVar submissions weren't included as additional cases as individual phenotypes were not recorded. Therefore rated Amber awaiting further published or clinical cases.
14 Feb 2019	Intellectual disability v2.651	SLC35A3	Rebecca Foulger Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	XRCC2	Louise Daugherty reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	UBE2T	Louise Daugherty commented on gene: UBE2T: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: UBE2T; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616435 Falcon anemia Fanconi anemia, complementation group T; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	TOP3A	Louise Daugherty commented on gene: TOP3A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TOP3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	SLX4	Louise Daugherty commented on gene: SLX4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLX4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613951 Fanconi Anemia Fanconi anemia, complementation group P; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	RAD51C	Louise Daugherty commented on gene: RAD51C: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RAD51C; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613390 Fanconi anemia, complementation group O; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	PALB2	Louise Daugherty commented on gene: PALB2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PALB2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610832 Fanconi anemia, complementation group N; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	MAD2L2	Louise Daugherty reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCM	Louise Daugherty commented on gene: FANCM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614087Fanconi anemia, complementation group M; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCL	Louise Daugherty commented on gene: FANCL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614083Fanconi anemia, complementation group L; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCI	Louise Daugherty commented on gene: FANCI: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609053 Fanconi anemia, complementation group I; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCG	Louise Daugherty commented on gene: FANCG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614082 Fanconi anemia, complementation group G; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCF	Louise Daugherty commented on gene: FANCF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 603467 Fanconi anemia, complementation group F; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCE	Louise Daugherty commented on gene: FANCE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600901 Fanconi anemia, complementation group E; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCD2	Louise Daugherty commented on gene: FANCD2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227646 Fanconi anemia, complementation group D2; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCC	Louise Daugherty commented on gene: FANCC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227645 Fanconi anemia, complementation group C; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCB	Louise Daugherty commented on gene: FANCB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300514 Falcon anemia Fanconi anemia, complementation group B; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	FANCA	Louise Daugherty commented on gene: FANCA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227650 Fanconi anemia complementation group A; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	ERCC4	Louise Daugherty commented on gene: ERCC4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ERCC4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615272 Fanconi anemia, complementation group Q; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	BRIP1	Louise Daugherty commented on gene: BRIP1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRIP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609054 Fanconi anemia, complementation group J; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	BRCA2	Louise Daugherty commented on gene: BRCA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605724 Fanconi anemia, complementation group D1; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	BRCA1	Louise Daugherty commented on gene: BRCA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617883 Fanconi anemia, complementation group S; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.11	BLM	Louise Daugherty commented on gene: BLM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210900 Bloom syndrome; PMID(s): none submitted
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	XRCC2	Mandy nesbitt reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617247 ?Fanconi anemia, complementation group U; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	UBE2T	Mandy nesbitt reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616435 Fanconi anemia, complementation group T; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	TOP3A	Mandy nesbitt reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	SLX4	Mandy nesbitt reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613951 Fanconi Anemia Fanconi anemia, complementation group P; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	RAD51C	Mandy nesbitt reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613390 Fanconi anemia, complementation group O; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	PALB2	Mandy nesbitt reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610832 Fanconi anemia, complementation group N; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	MAD2L2	Mandy nesbitt reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617243 ?Fanconi anemia, complementation group V; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCM	Mandy nesbitt reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614087Fanconi anemia, complementation group M; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCL	Mandy nesbitt reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614083Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCI	Mandy nesbitt reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609053 Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCG	Mandy nesbitt reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614082 Fanconi anemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCF	Mandy nesbitt reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 603467 Fanconi anemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCE	Mandy nesbitt reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600901 Fanconi anemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCD2	Mandy nesbitt reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227646 Fanconi anemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCC	Mandy nesbitt reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227645 Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCB	Mandy nesbitt reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300514 Fanconi anemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	FANCA	Mandy nesbitt reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227650 Fanconi anemia complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	ERCC4	Mandy nesbitt reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615272 Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	BRIP1	Mandy nesbitt reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609054 Fanconi anemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	BRCA2	Mandy nesbitt reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605724 Fanconi anemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	BRCA1	Mandy nesbitt reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617883 Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.10	BLM	Mandy nesbitt reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210900 Bloom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	XRCC2	Louise Daugherty Added phenotypes 617247 ?Fanconi anemia, complementation group U for gene: XRCC2
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	UBE2T	Louise Daugherty Added phenotypes 616435 Fanconi anemia, complementation group T for gene: UBE2T
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	TOP3A	Louise Daugherty Added phenotypes 618097 MGRISCE2 (Bloom-like syndrome) for gene: TOP3A
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	SLX4	Louise Daugherty Added phenotypes 613951 Fanconi Anemia Fanconi anemia, complementation group P for gene: SLX4
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	RAD51C	Louise Daugherty Added phenotypes 613390 Fanconi anemia, complementation group O for gene: RAD51C
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	PALB2	Louise Daugherty Added phenotypes 610832 Fanconi anemia, complementation group N for gene: PALB2
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	MAD2L2	Louise Daugherty Added phenotypes 617243 ?Fanconi anemia, complementation group V for gene: MAD2L2
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCM	Louise Daugherty Added phenotypes 614087Fanconi anemia, complementation group M for gene: FANCM
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCL	Louise Daugherty Added phenotypes 614083Fanconi anemia, complementation group L for gene: FANCL
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCI	Louise Daugherty Added phenotypes 609053 Fanconi anemia, complementation group I for gene: FANCI
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCG	Louise Daugherty Added phenotypes 614082 Fanconi anemia, complementation group G for gene: FANCG
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCF	Louise Daugherty Added phenotypes 603467 Fanconi anemia, complementation group F for gene: FANCF
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCE	Louise Daugherty Added phenotypes 600901 Fanconi anemia, complementation group E for gene: FANCE
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCD2	Louise Daugherty Added phenotypes 227646 Fanconi anemia, complementation group D2 for gene: FANCD2
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCC	Louise Daugherty Added phenotypes 227645 Fanconi anemia, complementation group C for gene: FANCC
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCB	Louise Daugherty Added phenotypes 300514 Fanconi anemia, complementation group B for gene: FANCB
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	FANCA	Louise Daugherty Added phenotypes 227650 Fanconi anemia complementation group A for gene: FANCA
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	ERCC4	Louise Daugherty Added phenotypes 615272 Fanconi anemia, complementation group Q for gene: ERCC4
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	BRIP1	Louise Daugherty Added phenotypes 609054 Fanconi anemia, complementation group J for gene: BRIP1
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	BRCA2	Louise Daugherty Added phenotypes 605724 Fanconi anemia, complementation group D1 for gene: BRCA2
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	BRCA1	Louise Daugherty Added phenotypes 617883 Fanconi anemia, complementation group S for gene: BRCA1
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.9	BLM	Louise Daugherty Added phenotypes 210900 Bloom syndrome for gene: BLM
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.8	XRCC2	Louise Daugherty Source NHS GMS was added to XRCC2.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.8	MAD2L2	Louise Daugherty Source NHS GMS was added to MAD2L2.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	XRCC2	Louise Daugherty gene: XRCC2 was added gene: XRCC2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH Mode of inheritance for gene: XRCC2 was set to
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	UBE2T	Louise Daugherty Source Yorkshire and North East GLH was added to UBE2T.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	TOP3A	Louise Daugherty Source Yorkshire and North East GLH was added to TOP3A.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	SLX4	Louise Daugherty Source Yorkshire and North East GLH was added to SLX4.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	RAD51C	Louise Daugherty Source Yorkshire and North East GLH was added to RAD51C.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	PALB2	Louise Daugherty Source Yorkshire and North East GLH was added to PALB2.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	MAD2L2	Louise Daugherty gene: MAD2L2 was added gene: MAD2L2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MAD2L2 was set to
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCM	Louise Daugherty Source Yorkshire and North East GLH was added to FANCM.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCL	Louise Daugherty Source Yorkshire and North East GLH was added to FANCL.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCI	Louise Daugherty Source Yorkshire and North East GLH was added to FANCI.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCG	Louise Daugherty Source Yorkshire and North East GLH was added to FANCG.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCF	Louise Daugherty Source Yorkshire and North East GLH was added to FANCF.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCE	Louise Daugherty Source Yorkshire and North East GLH was added to FANCE.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCD2	Louise Daugherty Source Yorkshire and North East GLH was added to FANCD2.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCC	Louise Daugherty Source Yorkshire and North East GLH was added to FANCC.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCB	Louise Daugherty Source Yorkshire and North East GLH was added to FANCB.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	FANCA	Louise Daugherty Source Yorkshire and North East GLH was added to FANCA.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	ERCC4	Louise Daugherty Source Yorkshire and North East GLH was added to ERCC4.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	BRIP1	Louise Daugherty Source Yorkshire and North East GLH was added to BRIP1.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	BRCA2	Louise Daugherty Source Yorkshire and North East GLH was added to BRCA2.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	BRCA1	Louise Daugherty Source Yorkshire and North East GLH was added to BRCA1.
14 Feb 2019	Fanconi anaemia or Bloom syndrome v0.7	BLM	Louise Daugherty Source Yorkshire and North East GLH was added to BLM.
14 Feb 2019	Intellectual disability v2.650	KCNQ3	Ivone Leong Classified gene: KCNQ3 as Green List (high evidence)
14 Feb 2019	Intellectual disability v2.650	KCNQ3	Ivone Leong Added comment: Comment on list classification: Promoted from amber to green, based on the expert reviews already provided. There are also >3 unrelated cases of patients with different variants in the KCNQ3 gene who have the described phenotype.
14 Feb 2019	Intellectual disability v2.650	KCNQ3	Ivone Leong Gene: kcnq3 has been classified as Green List (High Evidence).
14 Feb 2019	Intellectual disability v2.649	SLC35A3	Rebecca Foulger commented on gene: SLC35A3: The 2013 and 2016 ClinVar submissions SCV000699337.1 and SCV000108589.2 reported in the review by Konstantinos Varvagiannis link to the same publication: Edvardson et al. (2013, PMID:24031089).
14 Feb 2019	Intellectual disability v2.649	PBX1	Eleanor Williams Publications for gene: PBX1 were set to 28566479, 29036646
14 Feb 2019	Intellectual disability v2.648	PBX1	Eleanor Williams Classified gene: PBX1 as Green List (high evidence)
14 Feb 2019	Intellectual disability v2.648	PBX1	Eleanor Williams Added comment: Comment on list classification: More than 3 cases where patients show developmental delay as part of the phenotype.
14 Feb 2019	Intellectual disability v2.648	PBX1	Eleanor Williams Gene: pbx1 has been classified as Green List (High Evidence).
14 Feb 2019	Intellectual disability v2.647	SLC35A3	Rebecca Foulger commented on gene: SLC35A3: Marini et al. 2017 (PMID: 28328131) provide a second case. They report a non-consanguineous Italian family with two siblings manifesting a severe EE. Both siblings exhibited infantile spasms associated with focal and tonic seizures from early infancy. In addition, both had quadriplegia, acquired microcephaly and severe ID. WGS identified novel compound het variants in SLC35A3 in both children.
14 Feb 2019	Intellectual disability v2.647	SLC35A3	Rebecca Foulger commented on gene: SLC35A3
14 Feb 2019	Intellectual disability v2.647	PBX1	Eleanor Williams commented on gene: PBX1
14 Feb 2019	Rare anaemia v0.21	DKC1	Louise Daugherty Mode of inheritance for gene: DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.20	DKC1	Louise Daugherty Classified gene: DKC1 as Green List (high evidence)
14 Feb 2019	Rare anaemia v0.20	DKC1	Louise Daugherty Gene: dkc1 has been classified as Green List (High Evidence).
14 Feb 2019	Rare anaemia v0.19	CD59	Louise Daugherty Classified gene: CD59 as Green List (high evidence)
14 Feb 2019	Rare anaemia v0.19	CD59	Louise Daugherty Gene: cd59 has been classified as Green List (High Evidence).
14 Feb 2019	Rare anaemia v0.18	CD59	Louise Daugherty Mode of inheritance for gene: CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.17	YARS2	Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TSR2	Louise Daugherty commented on gene: TSR2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TRNT1	Louise Daugherty commented on gene: TRNT1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TRNT1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TPI1	Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TMPRSS6	Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200 Iron refractoryirondeficiencyanemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TF	Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Congenital hypotransferrinemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TCN2	Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 275350 Transcobalamin II deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SPTB	Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SPTA1	Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC4A1	Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612653 Spherocytosis, type 4;166900 Ovalocytosis, SA type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC2A1	Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC25A38	Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC19A2	Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC11A2	Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SEC23B	Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SBDS	Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS7	Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612563 Diamond_Blackfan Anemia 8; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS29	Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615909 Diamond-Blackfan anemia 13; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS28	Louise Daugherty commented on gene: RPS28: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS28; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS27	Louise Daugherty commented on gene: RPS27: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS26	Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613309 Diamond_Blackfan Anemia 10; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS24	Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610629 Diamond_Blackfan Anemia 3; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS19	Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 105650 Diamond_Blackfan Anemia 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS17	Louise Daugherty commented on gene: RPS17: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS17; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612527 Diamond-Blackfan anemia 4; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS10	Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613308 Diamond_Blackfan Anemia 9; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL9	Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Diamond-Blackfan anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL5	Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612561 Diamond_Blackfan Anemia 6; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL35A	Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612528 Diamond_Blackfan Anemia 5; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL31	Louise Daugherty commented on gene: RPL31: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL31; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A ? Diamond-Blackfan Anaemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL15	Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615550 ?Diamond-Blackfan anemia 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL11	Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612562 Diamond_Blackfan Anemia 7; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RHAG	Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PUS1	Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PKLR	Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266200 PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PIEZO1	Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PFKM	Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 232800 Glycogen storage disease VII; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	NT5C3A	Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	NHP2	Louise Daugherty reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Rare anaemia v0.17	MTRR	Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	MTR	Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	LPIN2	Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609628 Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	KLF1	Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613673 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	KIF23	Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Anaemia, dyserythropoietic congenital, type III; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	KCNN4	Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Hereditary Xerocytosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HSPA9	Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HK1	Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235700 Enzyme Disorder;Hemolytic anemia due to hexokinase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBG2	Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 141749 Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBG1	Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 141749 Globin Disorder;Fetal hemoglobin quantitative trait locus 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBD	Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: Thalassemia,delta; Thalassemia due to Hb Lepore; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBB	Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBA2	Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 60413 Thalassemia, alpha; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBA1	Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604131 Thalassemias, alpha; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GSS	Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231900 Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GSR	Louise Daugherty commented on gene: GSR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: N/A Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GPI	Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GLRX5	Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GCLC	Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230450 Glutamate-cysteine ligase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	G6PD	Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	EPB42	Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	EPB41	Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 611804 Hereditary elliptocytosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	DHFR	Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	DKC1	Louise Daugherty reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Rare anaemia v0.17	CYB5R3	Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	CUBN	Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	COX4I2	Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	CDAN1	Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	CD59	Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Rare anaemia v0.17	C15orf41	Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15orf41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615631 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ANK1	Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 182900 RBC membrane abnormality;Spherocytosis, type 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	AMN	Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ALDOA	Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 611881 Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ALAS2	Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300751 Anemia, sideroblastic, 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	AK1	Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ABCG8	Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ABCG5	Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ABCB7	Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.16	YARS2	Mandy nesbitt reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TSR2	Mandy nesbitt reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.16	TRNT1	Mandy nesbitt reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TPI1	Mandy nesbitt reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TMPRSS6	Mandy nesbitt reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 Iron refractoryirondeficiencyanemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TF	Mandy nesbitt reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Congenital hypotransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TCN2	Mandy nesbitt reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 275350 Transcobalamin II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SPTB	Mandy nesbitt reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SPTA1	Mandy nesbitt reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SLC4A1	Mandy nesbitt reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612653 Spherocytosis, type 4, 166900 Ovalocytosis, SA type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	SLC2A1	Mandy nesbitt reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	SLC25A38	Mandy nesbitt reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SLC19A2	Mandy nesbitt reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SLC11A2	Mandy nesbitt reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SEC23B	Mandy nesbitt reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SBDS	Mandy nesbitt reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS7	Mandy nesbitt reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612563 Diamond_Blackfan Anemia 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS29	Mandy nesbitt reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615909 Diamond-Blackfan anemia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPS28	Mandy nesbitt reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPS27	Mandy nesbitt reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPS26	Mandy nesbitt reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613309 Diamond_Blackfan Anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS24	Mandy nesbitt reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610629 Diamond_Blackfan Anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS19	Mandy nesbitt reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 105650 Diamond_Blackfan Anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS17	Mandy nesbitt reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612527 Diamond-Blackfan anemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS10	Mandy nesbitt reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613308 Diamond_Blackfan Anemia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPL9	Mandy nesbitt reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A Diamond-Blackfan anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPL5	Mandy nesbitt reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612561 Diamond_Blackfan Anemia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPL35A	Mandy nesbitt reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612528 Diamond_Blackfan Anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Rare anaemia v0.16	RPL31	Mandy nesbitt reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A ? Diamond-Blackfan Anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPL15	Mandy nesbitt reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615550 ?Diamond-Blackfan anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPL11	Mandy nesbitt reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612562 Diamond_Blackfan Anemia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RHAG	Mandy nesbitt reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	PUS1	Mandy nesbitt reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	PKLR	Mandy nesbitt reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266200 PYRUVATE KINASE DEFICIENCY, Enzyme Disorder, Pyruvate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	PIEZO1	Mandy nesbitt reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 194380 Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	PFKM	Mandy nesbitt reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 232800 Glycogen storage disease VII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	NT5C3A	Mandy nesbitt reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	NHP2	Mandy nesbitt reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	MTRR	Mandy nesbitt reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	MTR	Mandy nesbitt reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	LPIN2	Mandy nesbitt reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609628 Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	KLF1	Mandy nesbitt reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613673 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	KIF23	Mandy nesbitt reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anaemia, dyserythropoietic congenital, type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	KCNN4	Mandy nesbitt reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	HSPA9	Mandy nesbitt reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182170 sideroblastic anaemia type 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	HK1	Mandy nesbitt reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235700 Enzyme Disorder, Hemolytic anemia due to hexokinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	HBG2	Mandy nesbitt reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 141749 Globin Disorder, Cyanosis, transient neonatal, 613977, Fetal hemoglobin quantitative trait locus 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	HBG1	Mandy nesbitt reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 141749 Globin Disorder, Fetal hemoglobin quantitative trait locus 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Rare anaemia v0.16	HBD	Mandy nesbitt reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thalassemia,delta, Thalassemia due to Hb Lepore; Mode of inheritance: Unknown
14 Feb 2019	Rare anaemia v0.16	HBB	Mandy nesbitt reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613985 Thalassemia, beta, 603902 Thalassemia-beta, dominant inclusion-body; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	HBA2	Mandy nesbitt reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 60413 Thalassemia, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	HBA1	Mandy nesbitt reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604131 Thalassemias, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	GSS	Mandy nesbitt reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231900 Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 266130 Glutathione synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GSR	Mandy nesbitt reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
14 Feb 2019	Rare anaemia v0.16	GPI	Mandy nesbitt reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GLRX5	Mandy nesbitt reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GCLC	Mandy nesbitt reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230450 Glutamate-cysteine ligase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GATA1	Mandy nesbitt reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	G6PD	Mandy nesbitt reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
14 Feb 2019	Rare anaemia v0.16	EPB42	Mandy nesbitt reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612690 Hereditary spherocytosis type 5, Minkowski-Chauffard disease, Spherocytosis, Recessive, EPB42-related hereditary spherocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	EPB41	Mandy nesbitt reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611804 Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	DHFR	Mandy nesbitt reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	DKC1	Mandy nesbitt reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	CYB5R3	Mandy nesbitt reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250800 Methaemoglobinaemia type I and II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	CUBN	Mandy nesbitt reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	COX4I2	Mandy nesbitt reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	CDAN1	Mandy nesbitt reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	CD59	Mandy nesbitt reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita, X-linked; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	C15orf41	Mandy nesbitt reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615631 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ANK1	Mandy nesbitt reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182900 RBC membrane abnormality, Spherocytosis, type 1; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	AMN	Mandy nesbitt reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ALDOA	Mandy nesbitt reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611881 Aldolase A deficiency, Glycogen storage disease due to aldolase A deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	ALAS2	Mandy nesbitt reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300751 Anemia, sideroblastic, 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.16	AK1	Mandy nesbitt reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ABCG8	Mandy nesbitt reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ABCG5	Mandy nesbitt reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ABCB7	Mandy nesbitt reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301310 Sideroblastic Anemia and Ataxia, Anemia, sideroblastic, with ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.15	YARS2	Louise Daugherty Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2
14 Feb 2019	Rare anaemia v0.15	TSR2	Louise Daugherty Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis for gene: TSR2
14 Feb 2019	Rare anaemia v0.15	TRNT1	Louise Daugherty Added phenotypes 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay for gene: TRNT1
14 Feb 2019	Rare anaemia v0.15	TPI1	Louise Daugherty Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1
14 Feb 2019	Rare anaemia v0.15	TMPRSS6	Louise Daugherty Added phenotypes 206200 Iron refractoryirondeficiencyanemia for gene: TMPRSS6
14 Feb 2019	Rare anaemia v0.15	TF	Louise Daugherty Added phenotypes 209300 Congenital hypotransferrinemia for gene: TF
14 Feb 2019	Rare anaemia v0.15	TCN2	Louise Daugherty Added phenotypes 275350 Transcobalamin II deficiency for gene: TCN2
14 Feb 2019	Rare anaemia v0.15	SPTB	Louise Daugherty Added phenotypes 616649 Anemia, neonatal hemolytic, fatal and near-fatal for gene: SPTB
14 Feb 2019	Rare anaemia v0.15	SPTA1	Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3 for gene: SPTA1
14 Feb 2019	Rare anaemia v0.15	SLC4A1	Louise Daugherty Added phenotypes 166900 Ovalocytosis, SA type; 612653 Spherocytosis, type 4 for gene: SLC4A1
14 Feb 2019	Rare anaemia v0.15	SLC2A1	Louise Daugherty Added phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia for gene: SLC2A1
14 Feb 2019	Rare anaemia v0.15	SLC25A38	Louise Daugherty Added phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38
14 Feb 2019	Rare anaemia v0.15	SLC19A2	Louise Daugherty Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome for gene: SLC19A2
14 Feb 2019	Rare anaemia v0.15	SLC11A2	Louise Daugherty Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2
14 Feb 2019	Rare anaemia v0.15	SEC23B	Louise Daugherty Added phenotypes 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II for gene: SEC23B
14 Feb 2019	Rare anaemia v0.15	SBDS	Louise Daugherty Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS
14 Feb 2019	Rare anaemia v0.15	RPS7	Louise Daugherty Added phenotypes 612563 Diamond_Blackfan Anemia 8 for gene: RPS7
14 Feb 2019	Rare anaemia v0.15	RPS29	Louise Daugherty Added phenotypes 615909 Diamond-Blackfan anemia 13 for gene: RPS29
14 Feb 2019	Rare anaemia v0.15	RPS28	Louise Daugherty Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis for gene: RPS28
14 Feb 2019	Rare anaemia v0.15	RPS27	Louise Daugherty Added phenotypes 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27
14 Feb 2019	Rare anaemia v0.15	RPS26	Louise Daugherty Added phenotypes 613309 Diamond_Blackfan Anemia 10 for gene: RPS26
14 Feb 2019	Rare anaemia v0.15	RPS24	Louise Daugherty Added phenotypes 610629 Diamond_Blackfan Anemia 3 for gene: RPS24
14 Feb 2019	Rare anaemia v0.15	RPS19	Louise Daugherty Added phenotypes 105650 Diamond_Blackfan Anemia 1 for gene: RPS19
14 Feb 2019	Rare anaemia v0.15	RPS17	Louise Daugherty Added phenotypes 612527 Diamond-Blackfan anemia 4 for gene: RPS17
14 Feb 2019	Rare anaemia v0.15	RPS10	Louise Daugherty Added phenotypes 613308 Diamond_Blackfan Anemia 9 for gene: RPS10
14 Feb 2019	Rare anaemia v0.15	RPL9	Louise Daugherty Added phenotypes N/A Diamond-Blackfan anemia for gene: RPL9
14 Feb 2019	Rare anaemia v0.15	RPL5	Louise Daugherty Added phenotypes 612561 Diamond_Blackfan Anemia 6 for gene: RPL5
14 Feb 2019	Rare anaemia v0.15	RPL35A	Louise Daugherty Added phenotypes 612528 Diamond_Blackfan Anemia 5 for gene: RPL35A
14 Feb 2019	Rare anaemia v0.15	RPL31	Louise Daugherty Added phenotypes N/A ? Diamond-Blackfan Anaemia for gene: RPL31
14 Feb 2019	Rare anaemia v0.15	RPL15	Louise Daugherty Added phenotypes 615550 ?Diamond-Blackfan anemia 1 for gene: RPL15
14 Feb 2019	Rare anaemia v0.15	RPL11	Louise Daugherty Added phenotypes 612562 Diamond_Blackfan Anemia 7 for gene: RPL11
14 Feb 2019	Rare anaemia v0.15	RHAG	Louise Daugherty Added phenotypes 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
14 Feb 2019	Rare anaemia v0.15	PUS1	Louise Daugherty Added phenotypes 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia for gene: PUS1
14 Feb 2019	Rare anaemia v0.15	PKLR	Louise Daugherty Added phenotypes Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder for gene: PKLR
14 Feb 2019	Rare anaemia v0.15	PIEZO1	Louise Daugherty Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis for gene: PIEZO1
14 Feb 2019	Rare anaemia v0.15	PFKM	Louise Daugherty Added phenotypes 232800 Glycogen storage disease VII for gene: PFKM
14 Feb 2019	Rare anaemia v0.15	NT5C3A	Louise Daugherty Added phenotypes 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A
14 Feb 2019	Rare anaemia v0.15	NHP2	Louise Daugherty Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
14 Feb 2019	Rare anaemia v0.15	MTRR	Louise Daugherty Added phenotypes 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR
14 Feb 2019	Rare anaemia v0.15	MTR	Louise Daugherty Added phenotypes 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR
14 Feb 2019	Rare anaemia v0.15	LPIN2	Louise Daugherty Added phenotypes Majeed syndrome; CDA; 609628 Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
14 Feb 2019	Rare anaemia v0.15	KLF1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV; 613673 Congenital Dyserythropoietic Anemia for gene: KLF1
14 Feb 2019	Rare anaemia v0.15	KIF23	Louise Daugherty Added phenotypes Anaemia, dyserythropoietic congenital, type III for gene: KIF23
14 Feb 2019	Rare anaemia v0.15	KCNN4	Louise Daugherty Added phenotypes Hereditary Xerocytosis for gene: KCNN4
14 Feb 2019	Rare anaemia v0.15	HSPA9	Louise Daugherty Added phenotypes 182170 sideroblastic anaemia type 4 for gene: HSPA9
14 Feb 2019	Rare anaemia v0.15	HK1	Louise Daugherty Added phenotypes 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency for gene: HK1
14 Feb 2019	Rare anaemia v0.15	HBG2	Louise Daugherty Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG2
14 Feb 2019	Rare anaemia v0.15	HBG1	Louise Daugherty Added phenotypes Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG1
14 Feb 2019	Rare anaemia v0.15	HBD	Louise Daugherty Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD
14 Feb 2019	Rare anaemia v0.15	HBB	Louise Daugherty Added phenotypes 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body for gene: HBB
14 Feb 2019	Rare anaemia v0.15	HBA2	Louise Daugherty Added phenotypes 60413 Thalassemia, alpha for gene: HBA2
14 Feb 2019	Rare anaemia v0.15	HBA1	Louise Daugherty Added phenotypes 604131 Thalassemias, alpha for gene: HBA1
14 Feb 2019	Rare anaemia v0.15	GSS	Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; 231900 Enzyme Disorder for gene: GSS
14 Feb 2019	Rare anaemia v0.15	GSR	Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR
14 Feb 2019	Rare anaemia v0.15	GPI	Louise Daugherty Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency for gene: GPI
14 Feb 2019	Rare anaemia v0.15	GLRX5	Louise Daugherty Added phenotypes 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive for gene: GLRX5
14 Feb 2019	Rare anaemia v0.15	GCLC	Louise Daugherty Added phenotypes 230450 Glutamate-cysteine ligase deficiency for gene: GCLC
14 Feb 2019	Rare anaemia v0.15	GATA1	Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; 300367 Diamond Blackfan Anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
14 Feb 2019	Rare anaemia v0.15	G6PD	Louise Daugherty Added phenotypes 300908 Hemolytic anemia due to G6PD deficiency for gene: G6PD
14 Feb 2019	Rare anaemia v0.15	EPB42	Louise Daugherty Added phenotypes Minkowski-Chauffard disease; Spherocytosis, Recessive; 612690 Hereditary spherocytosis type 5; EPB42-related hereditary spherocytosis for gene: EPB42
14 Feb 2019	Rare anaemia v0.15	EPB41	Louise Daugherty Added phenotypes 611804 Hereditary elliptocytosis for gene: EPB41
14 Feb 2019	Rare anaemia v0.15	DHFR	Louise Daugherty Added phenotypes 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR
14 Feb 2019	Rare anaemia v0.15	DKC1	Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1
14 Feb 2019	Rare anaemia v0.15	CYB5R3	Louise Daugherty Added phenotypes 250800 Methaemoglobinaemia type I and II for gene: CYB5R3
14 Feb 2019	Rare anaemia v0.15	CUBN	Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN
14 Feb 2019	Rare anaemia v0.15	COX4I2	Louise Daugherty Added phenotypes 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
14 Feb 2019	Rare anaemia v0.15	CDAN1	Louise Daugherty Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1
14 Feb 2019	Rare anaemia v0.15	CD59	Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: CD59
14 Feb 2019	Rare anaemia v0.15	C15orf41	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital Dyserythropoietic Anemia for gene: C15orf41
14 Feb 2019	Rare anaemia v0.15	ANK1	Louise Daugherty Added phenotypes 182900 RBC membrane abnormality; Spherocytosis, type 1 for gene: ANK1

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