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Prepair 1000+ v1.1576 HADHA Lauren Rogers reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency 1 MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.375 HADHB Lilian Downie Marked gene: HADHB as ready
Prepair 1000+ v1.375 HADHB Lilian Downie Gene: hadhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 (3) to Mitochondrial trifunctional protein deficiency 2 MIM#620300
Prepair 1000+ v1.322 HADHB Lucy Spencer reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial trifunctional protein deficiency 2 MIM#620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 HADHB Seb Lunke Added phenotypes Trifunctional protein deficiency, 609015 (3) for gene: HADHB
Prepair 1000+ v1.3 HADHA Seb Lunke Added phenotypes Fatty liver, acute, of pregnancy, 609016 (3) for gene: HADHA
Prepair 1000+ v1.3 HADH Seb Lunke Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) for gene: HADH
Prepair 1000+ v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Prepair 1000+ v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Prepair 1000+ v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)