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| Ductal plate malformation v1.9 | ALG8 |
Ivone Leong 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 |
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| Ductal plate malformation v1.3 | ALG8 | Ivone Leong commented on gene: ALG8: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.2 | ALG8 | Ivone Leong Source NHS GMS was added to ALG8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.73 | ALG8 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.73 | ALG8 | Ivone Leong Mode of inheritance for gene: ALG8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.38 | ALG8 | Ivone Leong Marked gene: ALG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.38 | ALG8 | Ivone Leong Added comment: Comment when marking as ready: ALG is a disease causing gene of DPM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.38 | ALG8 | Ivone Leong Gene: alg8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.36 | ALG8 | Ivone Leong Publications for gene: ALG8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | ALG8 | Bill Griffiths reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28375157; Phenotypes: Polycystic liver disease, renal cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | ALG8 |
Ivone Leong Source Expert Review Green was added to ALG8. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Ductal plate malformation v0.26 | ALG8 | Ivone Leong reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 15235028, 28375157 ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.19 | ALG8 |
Ivone Leong 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) |
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| Ductal plate malformation v0.2 | ALG8 |
Ivone Leong 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) |
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