Clefting
Gene: ALG9
ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 13 panels
1 review
Helen Brittain (Genomics England Curator)
Of the three reported cases with mutations, clefting has not been a featureCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS
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
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Polycystic liver disease
- Likely inborn error of metabolism
- Fetal hydrops
- Fetal anomalies
- Intellectual disability
- Early onset or syndromic epilepsy
- Congenital disorders of glycosylation
- Clefting
- Cystic kidney disease
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ALG9 was created by ellenmcdonagh
26 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ALG9 was added to Cleftingpanel. Sources: Expert Review Red