Ductal plate malformationGene: ALG8
No exceptions known
Created: 25 Nov 2018, 8:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polycystic liver disease; renal cysts
Mode of pathogenicity
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.
Added phenotypes Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) for gene: ALG8 Publications for gene ALG8 were changed from 15235028; 28375157 to 28375157; 15235028
Source NHS GMS was added to ALG8.
Ivone Leong: ALG is also on the Congenital
Mode of inheritance for gene: ALG8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: alg8 has been classified as Green List (High Evidence).
Publications for gene: ALG8 were set to
Source Expert Review Green was added to ALG8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for gene ALG8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874) to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)
gene: ALG8 was added gene: ALG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874)