Polycystic liver disease

Gene: ALG8

In Schollen et al 2004 (PMID: 15235028) reports biallelic ALG8 variants in congenital disorders of glycosylation type Ih. One of the cases reported has multiple cystic dilated intra- and extrahepatic bile ducts, cholestasis, bilateral microcysts in all parts of the kidney in one case with c.672+4A.G in intron 6 and the missense mutation p.G275D (c.824G>A). Although this case is relevant to this panel, it does not justify biallelic mode of inheritance being applied to ALG8 variants in this panel.

Created: 29 Mar 2022, 2:05 p.m. | Last Modified: 29 Mar 2022, 2:05 p.m.

Panel Version: 1.23

Publications

• 15235028

Green List (high evidence)

No exceptions known

Created: 25 Nov 2018, 8:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease; renal cysts

Publications

• PMID: 28375157

Mode of pathogenicity
Other

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 12 Mar 2019, 11:26 a.m.

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALG8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 8 Jan 2019, 9:38 a.m.

Comment on mode of inheritance: Changed to monoallelic as variants in ALG8 that cause polycystic liver disease have an autosomal dominant mode of inheritance. Variants in ALG8 has a recessive mode of inheritance when involved with Congenital disorder of glycosylation.

Created: 28 Nov 2018, 9:36 a.m.

Comment when marking as ready: ALG is a disease causing gene of polycystic liver disease, which is confirmed in OMIM and Gene2Phenotype.

Created: 26 Nov 2018, 10:56 a.m.

ALG is also on the Congenital disorders of glycosylation and Undiagnosed metabolic disorders panels (green gene). It has a 'Disease confidence' confirmed status on Gene2Phenotype. One family with LOF variant causing hepatic phenotype and 5 unrelated probands with nonsense mutations.

Created: 12 Nov 2018, 1:55 p.m.

Publications

• 15235028
• 28375157