Cataract
Gene: DPAGT1EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported.
Sources: Expert ReviewCreated: 19 Dec 2020, 2:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Congenital disorder of glycosylation, type Ij, MIM# 608093
- DPAGT1-CDG MONDO:0011964
- OMIM
- 191350
- Clinvar variants
- Variants in DPAGT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Muscular dystrophy and myopathy_Paediatric
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpagt1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpagt1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DPAGT1 was added gene: DPAGT1 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111 Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964 Review for gene: DPAGT1 was set to GREEN