Neonatal cholestasis
Gene: HADHAComment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in numerous cases. Three unrelated cases of LCHAD deficiency 609016 homozygous for the variant c.1528G>C, p,E510Q had cholestasis (PMID 9003853;10518281), a rare feature of this condition. Supportive functional studies were also provided (PMID 8770876).Created: 14 Aug 2018, 3:37 p.m.
Comment on phenotypes: Variants also associated with Fatty liver, acute, of pregnancy 609016; HELLP syndrome, maternal, of pregnancy 609016; Trifunctional protein deficiency 609015.Created: 14 Aug 2018, 3:34 p.m.
This panel has been subjected to extensive internal and external review.
Mode of inheritance for gene: HADHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: hadha has been classified as Green List (High Evidence).
Gene: hadha has been classified as Green List (High Evidence).
Publications for gene: HADHA were set to 9003853; 10518281
Phenotypes for gene: HADHA were set to LCHAD deficiency 609016
HADHA was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
HADHA was created by Ellen McDonagh