PMID: 20142534 - patients 1 and 4 have cholestatic liver disease
PMID: 33720099 Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults. The top five genetic diagnoses for the group, in order: JAG1 + NOTCH2 (Alagille syndrome), ABCB11, SERPINA1, ABCB4, and POLG.
PMID: 17682973 Review of liver disease in mitochondrial disorders
Recognised presentation agree to green rating
Created: 20 Jan 2022, 1:10 p.m. | Last Modified: 20 Jan 2022, 1:10 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 tag was added to gene: POLG.
gene: POLG was added gene: POLG was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758