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Severe microcephaly

Gene: UGP2

Amber List (moderate evidence)

UGP2 (UDP-glucose pyrophosphorylase 2)
EnsemblGeneIds (GRCh38): ENSG00000169764
EnsemblGeneIds (GRCh37): ENSG00000169764
OMIM: 191760, Gene2Phenotype
UGP2 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Gene added to panel and rated Green by Zornitza Stark. Sufficient evidence and appropriate phenotype (progressive microcephaly seen in all patients with available data) for inclusion on panel: 22 patients from 15 families all with the same variant identified in PMID:31820119. Therefore there is sufficient evidence to rate this gene as Green at the next GMS panel update.
Created: 19 May 2021, 12:28 p.m. | Last Modified: 19 May 2021, 12:28 p.m.
Panel Version: 2.165

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Expert list
Created: 4 Sep 2020, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy; intellectual disability; microcephaly

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 83, OMIM:618744
Tags
Q2_21_rating
OMIM
191760
Clinvar variants
Variants in UGP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: UGP2.

19 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ugp2 has been classified as Amber List (Moderate Evidence).

19 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UGP2 were changed from Epileptic encephalopathy; intellectual disability; microcephaly to Developmental and epileptic encephalopathy 83, OMIM:618744

4 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: UGP2 was added gene: UGP2 was added to Severe microcephaly. Sources: Expert list 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 Review for gene: UGP2 was set to GREEN gene: UGP2 was marked as current diagnostic