Polycystic liver disease
Gene: ALG9EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 15 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Polycystic liver and kidney disease
- OMIM
- 606941
- Clinvar variants
- Variants in ALG9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Skeletal Dysplasia_Fetal
- Polycystic liver disease
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg9 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg9 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALG9 was added gene: ALG9 was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALG9 were set to 31395617; 30652979 Phenotypes for gene: ALG9 were set to Polycystic liver and kidney disease Review for gene: ALG9 was set to AMBER