Cholestasis
Gene: HADHA
PMID: 9003853 2/13 patients had cholestatic liver disease
PMID: 10518281 - 1 patient with cholestatic liver disease
Rare presentation of cholestatic liver disease - ok to rate as greenCreated: 20 Jan 2022, 2:24 p.m. | Last Modified: 20 Jan 2022, 2:24 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Tag for-review was removed from gene: HADHA. Tag Q1_22_NHS_review was removed from gene: HADHA.
Source Expert Review Green was added to HADHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: HADHA.
Tag for-review tag was added to gene: HADHA.
gene: HADHA was added gene: HADHA was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 10518281; 9003853 Phenotypes for gene: HADHA were set to LCHAD deficiency, OMIM:609016, MONDO:0012173