Polycystic liver disease
Gene: ALG8In 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
No exceptions knownCreated: 25 Nov 2018, 8:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver disease; renal cysts
Publications
Mode of pathogenicity
Other
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 givenCreated: 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
Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) to Polycystic liver disease 3 with or without kidney cysts, OMIM:617874
Gene: alg8 has been classified as Green List (High Evidence).
gene: ALG8 was added gene: ALG8 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG8 were set to 28375157; 15235028 Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)