Regression
Gene: ALG6EnsemblGeneIds (GRCh38): ENSG00000088035
EnsemblGeneIds (GRCh37): ENSG00000088035
OMIM: 604566, Gene2Phenotype
ALG6 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Neurodevelopmental regression does not appear to be a prominent part of this condition.Created: 24 Nov 2020, 10:38 p.m. | Last Modified: 24 Nov 2020, 10:38 p.m.
Panel Version: 0.206
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ic (MIM#603147)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital disorder of glycosylation, type Ic (MIM#603147)
- OMIM
- 604566
- Clinvar variants
- Variants in ALG6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg6 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALG6 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alg6 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALG6 was added gene: ALG6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG6 was set to Unknown