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Prepair 500+ v0.0 NDUFAF2 Seb Lunke gene: NDUFAF2 was added
gene: NDUFAF2 was added to Prepair 500+. 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)
Prepair 500+ v0.0 NCF2 Seb Lunke gene: NCF2 was added
gene: NCF2 was added to Prepair 500+. 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)
Prepair 500+ v0.0 F2 Seb Lunke gene: F2 was added
gene: F2 was added to Prepair 500+. 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 Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679
Prepair 500+ v0.0 EIF2B5 Seb Lunke gene: EIF2B5 was added
gene: EIF2B5 was added to Prepair 500+. 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)
Prepair 500+ v0.0 EIF2B4 Seb Lunke gene: EIF2B4 was added
gene: EIF2B4 was added to Prepair 500+. 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)
Prepair 500+ v0.0 EIF2B3 Seb Lunke gene: EIF2B3 was added
gene: EIF2B3 was added to Prepair 500+. 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)
Prepair 500+ v0.0 EIF2B2 Seb Lunke gene: EIF2B2 was added
gene: EIF2B2 was added to Prepair 500+. 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)
Prepair 500+ v0.0 EIF2B1 Seb Lunke gene: EIF2B1 was added
gene: EIF2B1 was added to Prepair 500+. 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)
Prepair 500+ v0.0 EIF2AK3 Seb Lunke gene: EIF2AK3 was added
gene: EIF2AK3 was added to Prepair 500+. 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)