Microcephaly
Gene: UGP2
UGP2 (UDP-glucose pyrophosphorylase 2)
EnsemblGeneIds (GRCh38): ENSG00000169764
EnsemblGeneIds (GRCh37): ENSG00000169764
OMIM: 191760, Gene2Phenotype
UGP2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000169764
EnsemblGeneIds (GRCh37): ENSG00000169764
OMIM: 191760, Gene2Phenotype
UGP2 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: LiteratureCreated: 4 Jan 2020, 1:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy; intellectual disability; microcephaly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epileptic encephalopathy
- intellectual disability
- microcephaly
- OMIM
- 191760
- Clinvar variants
- Variants in UGP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ugp2 has been classified as Green List (High Evidence).
4 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ugp2 has been classified as Green List (High Evidence).
4 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: UGP2 was added gene: UGP2 was added to Microcephaly_VCGS. Sources: Literature Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGP2 were set to 31820119 Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly