Clefting disorders
Gene: ALG9
ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- GILLESSEN-KAESBACH-NISHIMURA SYNDROME
- GIKANIS
- OMIM
- 606941
- Clinvar variants
- Variants in ALG9
- Penetrance
- None
- 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
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALG9 was added gene: ALG9 was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG9 were set to GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS