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Date	Panel	Item	Activity
Filter activities 35 actions
16 Jul 2024	Prepair 1000+ v1.7	AFF2	Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
02 Nov 2023	Prepair 1000+ v1.3	NDUFAF2	Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFAF2
02 Nov 2023	Prepair 1000+ v1.3	NCF2	Seb Lunke Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) for gene: NCF2
02 Nov 2023	Prepair 1000+ v1.3	F2	Seb Lunke Added phenotypes Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679) for gene: F2
02 Nov 2023	Prepair 1000+ v1.3	EIF2B5	Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B5
02 Nov 2023	Prepair 1000+ v1.3	EIF2B4	Seb Lunke Added phenotypes Leukoencephaly with vanishing white matter, 603896 (3) for gene: EIF2B4
02 Nov 2023	Prepair 1000+ v1.3	EIF2B3	Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B3
02 Nov 2023	Prepair 1000+ v1.3	EIF2B2	Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B2
02 Nov 2023	Prepair 1000+ v1.3	EIF2B1	Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B1
02 Nov 2023	Prepair 1000+ v1.3	EIF2AK3	Seb Lunke Added phenotypes Wolcott-Rallison syndrome, 226980 (3) for gene: EIF2AK3
09 Sep 2022	Prepair 1000+ v0.179	F2	Zornitza Stark Marked gene: F2 as ready
09 Sep 2022	Prepair 1000+ v0.179	F2	Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
09 Sep 2022	Prepair 1000+ v0.179	F2	Zornitza Stark Phenotypes for gene: F2 were changed from Dysprothrombinemia, 613679 (3) to Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679)
09 Sep 2022	Prepair 1000+ v0.178	F2	Zornitza Stark Tag for review was removed from gene: F2.
09 Sep 2022	Prepair 1000+ v0.178	F2	Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoprothrombinaemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Jul 2022	Prepair 1000+ v0.50	F2	Zornitza Stark Tag for review tag was added to gene: F2.
15 Jul 2022	Prepair 1000+ v0.49	F2	Crystle Lee reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysprothrombinemia (MIM#613679), Hypoprothrombinemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Jun 2022	Prepair 1000+ v0.0	AFF2	Zornitza Stark gene: AFF2 was added gene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548
01 Jun 2022	Prepair 1000+ v0.0	SCARF2	Zornitza Stark gene: SCARF2 was added gene: SCARF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)
01 Jun 2022	Prepair 1000+ v0.0	SBF2	Zornitza Stark gene: SBF2 was added gene: SBF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
01 Jun 2022	Prepair 1000+ v0.0	NDUFAF2	Zornitza Stark gene: NDUFAF2 was added gene: NDUFAF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
01 Jun 2022	Prepair 1000+ v0.0	NCF2	Zornitza Stark gene: NCF2 was added gene: NCF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
01 Jun 2022	Prepair 1000+ v0.0	GTF2H5	Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)
01 Jun 2022	Prepair 1000+ v0.0	F2	Zornitza Stark gene: F2 was added gene: F2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2S3	Zornitza Stark gene: EIF2S3 was added gene: EIF2S3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive
01 Jun 2022	Prepair 1000+ v0.0	EIF2B5	Zornitza Stark gene: EIF2B5 was added gene: EIF2B5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2B4	Zornitza Stark gene: EIF2B4 was added gene: EIF2B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2B3	Zornitza Stark gene: EIF2B3 was added gene: EIF2B3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2B2	Zornitza Stark gene: EIF2B2 was added gene: EIF2B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2B1	Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2AK4	Zornitza Stark gene: EIF2AK4 was added gene: EIF2AK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)
01 Jun 2022	Prepair 1000+ v0.0	EIF2AK3	Zornitza Stark gene: EIF2AK3 was added gene: EIF2AK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
01 Jun 2022	Prepair 1000+ v0.0	CYP4F22	Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
01 Jun 2022	Prepair 1000+ v0.0	C21orf2	Zornitza Stark gene: C21orf2 was added gene: C21orf2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
01 Jun 2022	Prepair 1000+ v0.0	ARFGEF2	Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)